Senarai Penerbitan
Terdapat sebilangan besar penyelidikan berkaitan autisme yang boleh dijumpai di Malaysia yang umumnya menumpukan pada ASD, gangguan pembelajaran, alat bantu komunikasi, terapi dan banyak lagi. Senarai penerbitan disediakan di bawah:
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2019 |
Mohamad, F H; Telah, A T C The α5-Containing GABA A Receptors—a Brief Summary Artikel Jurnal Journal of Molecular Neuroscience, 67 (2), hlm. 343-351, 2019, ISSN: 08958696, (dipetik oleh 1). Abstrak | Pautan | BibTeX | Tag: 4 Aminobutyric Acid, 4 Aminobutyric Acid A Receptor, Alpha5 Containing 4 Aminobutyric Acid A Receptor, Haiwan, Autisme, Otak, Cognitive Defect, Cognitive Dysfunction, Drug Effect, GABA Agents, GABA-A, GABAergic Receptor Affecting Agent, Genetik, Manusia, Metabolisme, Bukan Manusia, Protein Subunit, Protein Subunits, Receptors, Kaji semula, Skizofrenia, Dadah yang tidak dikelaskan @artikel{Mohamad2019343, tajuk = {The α5-Containing GABA A Receptors—a Brief Summary}, pengarang = {F H Mohamad and A T C Has}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85059596842&doi=10.1007%2fs12031-018-1246-4&rakan kongsi = 40&md5=7b2ba0dc86c6c3f890f226cad8195ee5}, doi = {10.1007/s12031-018-1246-4}, terbitan = {08958696}, tahun = {2019}, tarikh = {2019-01-01}, jurnal = {Journal of Molecular Neuroscience}, isi padu = {67}, nombor = {2}, halaman = {343-351}, penerbit = {Springer New York LLC}, abstrak = {GABA A receptors are the major inhibitory neurotransmitter receptor in the human brain. The receptors are assembled from combination of protein subunits in pentameric complex which may consist of α1–6, β1–3, γ1–3, ρ1–3, δ, ε, θ, or π subunits. There are a theoretical > 150,000 possible assemblies and arrangements of GABA A subunits, although only a few combinations have been found in human with the most dominant consists of 2α1, 2β2, and 1γ2 in a counterclockwise arrangement as seen from the synaptic cleft. The receptors also possess binding sites for various unrelated substances including benzodiazepines, barbiturates, and anesthetics. The α5-containing GABA A Rs only make up ≤ 5% of the entire receptor population, but up to 25% of the receptor subtype is located in the crucial learning and memory-associated area of the brain—the hippocampus, which has ignited myriads of hypotheses and theories in regard to its role. As well as exhibiting synaptic phasic inhibition, the α5-containing receptors are also extrasynaptic and mediate tonic inhibition with continuously occurring smaller amplitude. Studies on negative-allosteric modulators for reducing this tonic inhibition have been shown to enhance learning and memory in neurological disorders such as schizophrenia, Sindrom Down, and autism with a possible alternative benzodiazepine binding site. Oleh itu, a few α5 subunit-specific compounds have been developed to address these pharmacological needs. With its small population, the α5-containing receptors could be the key and also the answer for many untreated cognitive dysfunctions and disorders. © 2019, Springer Science + Media Perniagaan, LLC, bahagian dari Springer Nature.}, nota = {dipetik oleh 1}, kata kunci = {4 Aminobutyric Acid, 4 Aminobutyric Acid A Receptor, Alpha5 Containing 4 Aminobutyric Acid A Receptor, Haiwan, Autisme, Otak, Cognitive Defect, Cognitive Dysfunction, Drug Effect, GABA Agents, GABA-A, GABAergic Receptor Affecting Agent, Genetik, Manusia, Metabolisme, Bukan Manusia, Protein Subunit, Protein Subunits, Receptors, Kaji semula, Skizofrenia, Dadah yang tidak dikelaskan}, pubstate = {diterbitkan}, tppubtype = {artikel} } GABA A receptors are the major inhibitory neurotransmitter receptor in the human brain. The receptors are assembled from combination of protein subunits in pentameric complex which may consist of α1–6, β1–3, γ1–3, ρ1–3, δ, ε, θ, or π subunits. There are a theoretical > 150,000 possible assemblies and arrangements of GABA A subunits, although only a few combinations have been found in human with the most dominant consists of 2α1, 2β2, and 1γ2 in a counterclockwise arrangement as seen from the synaptic cleft. The receptors also possess binding sites for various unrelated substances including benzodiazepines, barbiturates, and anesthetics. The α5-containing GABA A Rs only make up ≤ 5% of the entire receptor population, but up to 25% of the receptor subtype is located in the crucial learning and memory-associated area of the brain—the hippocampus, which has ignited myriads of hypotheses and theories in regard to its role. As well as exhibiting synaptic phasic inhibition, the α5-containing receptors are also extrasynaptic and mediate tonic inhibition with continuously occurring smaller amplitude. Studies on negative-allosteric modulators for reducing this tonic inhibition have been shown to enhance learning and memory in neurological disorders such as schizophrenia, Sindrom Down, and autism with a possible alternative benzodiazepine binding site. Oleh itu, a few α5 subunit-specific compounds have been developed to address these pharmacological needs. With its small population, the α5-containing receptors could be the key and also the answer for many untreated cognitive dysfunctions and disorders. © 2019, Springer Science + Media Perniagaan, LLC, bahagian dari Springer Nature. |
2018 |
Tsuchida, N; Hamada, K; Shiina, M; Kato, M; Kobayashi, Y; Tohyama, J; Kimura, K; Hoshino, K; Ganesan, V; Teik, K W; Nakashima, M; Mitsuhashi, S; Mizuguchi, T; Takata, A; Miyake, N; Saitsu, H; Ogata, K; Miyatake, S; Matsumoto, N GRIN2D variants in three cases of developmental and epileptic encephalopathy Artikel Jurnal Clinical Genetics, 94 (6), hlm. 538-547, 2018, ISSN: 00099163, (dipetik oleh 4). Abstrak | Pautan | BibTeX | Tag: Remaja, Allele, Amino Acid Sequence, Amino Acid Substitution, Amino Terminal Sequence, Anemia, Antibiotic Agent, Antibiotic Therapy, Artikel, Atonic Seizure, Gangguan Defisit Perhatian, Autisme, Binding Affinity, Otak, Brain Atrophy, Carbamazepine, Laporan kes, Channel Gating, Kimia, Anak-anak, Artikel Klinikal, Clinical Feature, Clobazam, Clonazepam, Conformational Transition, Continuous Infusion, Contracture, Crystal Structure, Cysteine Ethyl Ester Tc 99m, Kelewatan Perkembangan, Gangguan Perkembangan, Elektroencephalogram, Elektroensefalografi, Epilepsi, Epileptic Discharge, Ethosuximide, Eye Tracking, Febrile Convulsion, Perempuan, Frontal Lobe Epilepsy, Gen, Gene Frequency, Genetic Variation, Genetik, Genotype, GRIN2D Protein, Heterozygosity, Home Oxygen Therapy, Manusia, Sel Manusia, Hydrogen Bond, Kemerosotan Intelektual, Intelligence Quotient, Intractable Epilepsy, Ketamine, Lacosamide, Lamotrigine, Lennox Gastaut Syndrome, Levetiracetam, Magnetoencephalography, Lelaki, Maternal Hypertension, Melatonin, Migraine, Missense Mutation, Molecular Dynamics, Molecular Dynamics Simulation, Mutation, Myoclonus Seizure, N Methyl Dextro Aspartic Acid Receptor, N Methyl Dextro Aspartic Acid Receptor 2D, N-Methyl-D-Aspartate, Neonatal Pneumonia, Neonatal Respiratory Distress Syndrome, Neuroimaging, Nuclear Magnetic Resonance Imaging, Phenobarbital, Premature Labor, Prasekolah, Kanak-kanak Prasekolah, Jurnal Keutamaan, Protein Conformation, Proximal Interphalangeal Joint, Pyridoxine, Receptors, Respiratory Arrest, Sanger Sequencing, Budak sekolah, Single Photon Emission Computed Tomography, Sleep Disordered Breathing, Static Electricity, Stridor, Structure-Activity Relationship, Subglottic Stenosis, Superior Temporal Gyrus, Supramarginal Gyrus, Thiopental, Tonic Seizure, Valproic Acid, Wakefulness, Wechsler Intelligence Scale for Children, Whole Exome Sequencing @artikel{Tsuchida2018538, tajuk = {GRIN2D variants in three cases of developmental and epileptic encephalopathy}, pengarang = {N Tsuchida and K Hamada and M Shiina and M Kato and Y Kobayashi and J Tohyama and K Kimura and K Hoshino and V Ganesan and K W Teik and M Nakashima and S Mitsuhashi and T Mizuguchi and A Takata and N Miyake and H Saitsu and K Ogata and S Miyatake and N Matsumoto}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85056487337&doi=10.1111%2fcge.13454&rakan kongsi = 40&md5=f0d32670db57261820bc244943cffd62}, doi = {10.1111/cge.13454}, terbitan = {00099163}, tahun = {2018}, tarikh = {2018-01-01}, jurnal = {Clinical Genetics}, isi padu = {94}, nombor = {6}, halaman = {538-547}, penerbit = {Blackwell Publishing Ltd}, abstrak = {N-methyl-d-aspartate (NMDA) receptors are glutamate-activated ion channels that are widely distributed in the central nervous system and essential for brain development and function. Dysfunction of NMDA receptors has been associated with various neurodevelopmental disorders. Baru-baru ini, a de novo recurrent GRIN2D missense variant was found in two unrelated patients with developmental and epileptic encephalopathy. Dalam kajian ini, we identified by whole exome sequencing novel heterozygous GRIN2D missense variants in three unrelated patients with severe developmental delay and intractable epilepsy. All altered residues were highly conserved across vertebrates and among the four GluN2 subunits. Structural consideration indicated that all three variants are probably to impair GluN2D function, either by affecting intersubunit interaction or altering channel gating activity. We assessed the clinical features of our three cases and compared them to those of the two previously reported GRIN2D variant cases, and found that they all show similar clinical features. This study provides further evidence of GRIN2D variants being causal for epilepsy. Genetic diagnosis for GluN2-related disorders may be clinically useful when considering drug therapy targeting NMDA receptors. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd}, nota = {dipetik oleh 4}, kata kunci = {Remaja, Allele, Amino Acid Sequence, Amino Acid Substitution, Amino Terminal Sequence, Anemia, Antibiotic Agent, Antibiotic Therapy, Artikel, Atonic Seizure, Gangguan Defisit Perhatian, Autisme, Binding Affinity, Otak, Brain Atrophy, Carbamazepine, Laporan kes, Channel Gating, Kimia, Anak-anak, Artikel Klinikal, Clinical Feature, Clobazam, Clonazepam, Conformational Transition, Continuous Infusion, Contracture, Crystal Structure, Cysteine Ethyl Ester Tc 99m, Kelewatan Perkembangan, Gangguan Perkembangan, Elektroencephalogram, Elektroensefalografi, Epilepsi, Epileptic Discharge, Ethosuximide, Eye Tracking, Febrile Convulsion, Perempuan, Frontal Lobe Epilepsy, Gen, Gene Frequency, Genetic Variation, Genetik, Genotype, GRIN2D Protein, Heterozygosity, Home Oxygen Therapy, Manusia, Sel Manusia, Hydrogen Bond, Kemerosotan Intelektual, Intelligence Quotient, Intractable Epilepsy, Ketamine, Lacosamide, Lamotrigine, Lennox Gastaut Syndrome, Levetiracetam, Magnetoencephalography, Lelaki, Maternal Hypertension, Melatonin, Migraine, Missense Mutation, Molecular Dynamics, Molecular Dynamics Simulation, Mutation, Myoclonus Seizure, N Methyl Dextro Aspartic Acid Receptor, N Methyl Dextro Aspartic Acid Receptor 2D, N-Methyl-D-Aspartate, Neonatal Pneumonia, Neonatal Respiratory Distress Syndrome, Neuroimaging, Nuclear Magnetic Resonance Imaging, Phenobarbital, Premature Labor, Prasekolah, Kanak-kanak Prasekolah, Jurnal Keutamaan, Protein Conformation, Proximal Interphalangeal Joint, Pyridoxine, Receptors, Respiratory Arrest, Sanger Sequencing, Budak sekolah, Single Photon Emission Computed Tomography, Sleep Disordered Breathing, Static Electricity, Stridor, Structure-Activity Relationship, Subglottic Stenosis, Superior Temporal Gyrus, Supramarginal Gyrus, Thiopental, Tonic Seizure, Valproic Acid, Wakefulness, Wechsler Intelligence Scale for Children, Whole Exome Sequencing}, pubstate = {diterbitkan}, tppubtype = {artikel} } N-methyl-d-aspartate (NMDA) receptors are glutamate-activated ion channels that are widely distributed in the central nervous system and essential for brain development and function. Dysfunction of NMDA receptors has been associated with various neurodevelopmental disorders. Baru-baru ini, a de novo recurrent GRIN2D missense variant was found in two unrelated patients with developmental and epileptic encephalopathy. Dalam kajian ini, we identified by whole exome sequencing novel heterozygous GRIN2D missense variants in three unrelated patients with severe developmental delay and intractable epilepsy. All altered residues were highly conserved across vertebrates and among the four GluN2 subunits. Structural consideration indicated that all three variants are probably to impair GluN2D function, either by affecting intersubunit interaction or altering channel gating activity. We assessed the clinical features of our three cases and compared them to those of the two previously reported GRIN2D variant cases, and found that they all show similar clinical features. This study provides further evidence of GRIN2D variants being causal for epilepsy. Genetic diagnosis for GluN2-related disorders may be clinically useful when considering drug therapy targeting NMDA receptors. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd |
2017 |
Hnoonual, A; Thammachote, W; Tim-Aroon, T; Rojnueangnit, K; Hansakunachai, T; Sombuntham, T; Roongpraiwan, R; Vorachotekamjorn, J; Chuthapisith, J; Fucharoen, S; Wattanasirichaigoon, D; Ruangdaraganon, N; Limprasert, P; Jinawath, N Laporan Saintifik, 7 (1), 2017, ISSN: 20452322, (dipetik oleh 6). Abstrak | Pautan | BibTeX | Tag: Remaja, Autisme, Gangguan Spektrum Autisme, Anak-anak, Pemetaan Kromosom, Pemetaan Kromosom, Analisis Kohort, Kajian Kohort, Variasi Nombor Salin, Variasi Nombor Salinan DNA, Perempuan, Kecenderungan Genetik, Kecenderungan Genetik kepada Penyakit, Genetik, Manusia, Bayi, Lelaki, Protein Membran, Protein Membran, Analisis Mikroarray, Polimorfisme, Prasekolah, Kanak-kanak Prasekolah, Prosedur, SERINC2 Protein, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal @artikel{Hnoual2017, tajuk = {Analisis microarray kromosom dalam kohort populasi yang kurang diwakili mengenal pasti SERINC2 sebagai gen calon baru untuk gangguan spektrum autisme}, pengarang = {A Hnoonual dan W Thammachote dan T Tim-Aroon dan K Rojnueangnit dan T Hansakunachai dan T Sombuntham dan R Roongpraiwan dan J Worachotekamjorn dan J Chuthapisith dan S Fucharoen dan D Wattanasirichaigoon dan N Ruangdaraganon dan P Limprasert dan N Jinawath}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85029864969&doi=10.1038/s41598-017-12317-3&rakan kongsi = 40&md5=3c1b6a0c064665aab8ace8e8f58c2b01}, doi = {10.1038/s41598-017-12317-3}, terbitan = {20452322}, tahun = {2017}, tarikh = {2017-01-01}, jurnal = {Laporan Saintifik}, isi padu = {7}, nombor = {1}, penerbit = {Kumpulan Penerbitan Alam}, abstrak = {Mikroarray kromosom (CMA) kini diiktiraf sebagai ujian genetik peringkat pertama untuk pengesanan variasi nombor salinan (CNV) pada pesakit dengan gangguan spektrum autisme (ASD). Matlamat kajian ini adalah untuk mengenal pasti ASD-CNV yang diketahui dan baru yang berkaitan dan untuk menilai hasil diagnostik CMA dalam pesakit Thai dengan ASD. Infinium CytoSNP-850K BeadChip telah digunakan untuk mengesan CNV dalam 114 Pesakit Thai terdiri daripada 68 pesakit ASD retrospektif (kumpulan 1) dengan penggunaan CMA sebagai ujian baris kedua dan 46 bakal pesakit ASD dan kelewatan perkembangan (kumpulan 2) dengan penggunaan CMA sebagai ujian peringkat pertama. Kami mengenal pasti 7 (6.1%) CNV patogenik dan 22 (19.3%) varian kepentingan klinikal yang tidak pasti (ANDA). Sejumlah 29 pesakit dengan CNV patogen dan VOUS ditemui di 22% (15/68) dan 30.4% (14/46) daripada pesakit dalam kumpulan 1 dan 2, masing-masing. Perbezaan frekuensi CNV yang dikesan antara 2 kumpulan tidak signifikan secara statistik (Chi kuasa dua = 1.02}, nota = {dipetik oleh 6}, kata kunci = {Remaja, Autisme, Gangguan Spektrum Autisme, Anak-anak, Pemetaan Kromosom, Pemetaan Kromosom, Analisis Kohort, Kajian Kohort, Variasi Nombor Salin, Variasi Nombor Salinan DNA, Perempuan, Kecenderungan Genetik, Kecenderungan Genetik kepada Penyakit, Genetik, Manusia, Bayi, Lelaki, Protein Membran, Protein Membran, Analisis Mikroarray, Polimorfisme, Prasekolah, Kanak-kanak Prasekolah, Prosedur, SERINC2 Protein, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal}, pubstate = {diterbitkan}, tppubtype = {artikel} } Mikroarray kromosom (CMA) kini diiktiraf sebagai ujian genetik peringkat pertama untuk pengesanan variasi nombor salinan (CNV) pada pesakit dengan gangguan spektrum autisme (ASD). Matlamat kajian ini adalah untuk mengenal pasti ASD-CNV yang diketahui dan baru yang berkaitan dan untuk menilai hasil diagnostik CMA dalam pesakit Thai dengan ASD. Infinium CytoSNP-850K BeadChip telah digunakan untuk mengesan CNV dalam 114 Pesakit Thai terdiri daripada 68 pesakit ASD retrospektif (kumpulan 1) dengan penggunaan CMA sebagai ujian baris kedua dan 46 bakal pesakit ASD dan kelewatan perkembangan (kumpulan 2) dengan penggunaan CMA sebagai ujian peringkat pertama. Kami mengenal pasti 7 (6.1%) CNV patogenik dan 22 (19.3%) varian kepentingan klinikal yang tidak pasti (ANDA). Sejumlah 29 pesakit dengan CNV patogen dan VOUS ditemui di 22% (15/68) dan 30.4% (14/46) daripada pesakit dalam kumpulan 1 dan 2, masing-masing. Perbezaan frekuensi CNV yang dikesan antara 2 kumpulan tidak signifikan secara statistik (Chi kuasa dua = 1.02 |
Hameed, S S; Hassan, R; Muhammad, F F Pemilihan dan klasifikasi ekspresi gen dalam gangguan autisme: Penggunaan gabungan penapis statistik dan algoritma GBPSO-SVM Artikel Jurnal PLoS SATU, 12 (11), 2017, ISSN: 19326203, (dipetik oleh 11). Abstrak | Pautan | BibTeX | Tag: Ketepatan, Algoritma, Artikel, Autisme, Gangguan Spektrum Autisme, Gen CAPS2, Pengelasan (maklumat), Pengelas, Kajian Eksperimen, Gen, Ekspresi Gen, Pengenalan Gen, Persatuan Genetik, Prosedur Genetik, Risiko Genetik, Genetik, Algoritma Mesin Vektor Sokongan Pengoptimuman Zarah Perduaan Perduaan Geometri, Manusia, Penilaian risiko, Penyeragaman, Penapis Statistik, Parameter Statistik, Statistik, Mesin Vektor Sokongan @artikel{Hameed2017, tajuk = {Pemilihan dan klasifikasi ekspresi gen dalam gangguan autisme: Penggunaan gabungan penapis statistik dan algoritma GBPSO-SVM}, pengarang = {S S Hameed dan R Hassan dan F F Muhammad}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85033361187&doi=10.1371/journal.pone.0187371&rakan kongsi = 40&md5=f9260d41165145f229a3cf157699635e}, doi = {10.1371/jurnal.pone.0187371}, terbitan = {19326203}, tahun = {2017}, tarikh = {2017-01-01}, jurnal = {PLoS SATU}, isi padu = {12}, nombor = {11}, penerbit = {Perpustakaan Awam Sains}, abstrak = {Dalam kerja ini, ekspresi gen dalam gangguan spektrum autisme (ASD) dianalisis dengan matlamat untuk memilih gen yang paling dikaitkan dan melaksanakan pengelasan. Objektif ini dicapai dengan menggunakan gabungan pelbagai penapis statistik dan mesin vektor sokongan pengoptimuman zarah binari geometri berasaskan pembalut (GBPSO-SVM) algoritma. Penggunaan penapis yang berbeza telah diserlahkan dengan memasukkan kriteria nisbah min dan median untuk membuang gen yang sangat serupa. Keputusan menunjukkan bahawa gen yang paling diskriminatif yang dikenal pasti dalam langkah pemilihan pertama dan terakhir termasuk kehadiran gen berulang. (CAPS2), yang ditugaskan sebagai gen yang paling berkaitan dengan risiko ASD. Subset gen gabungan yang dipilih oleh algoritma GBPSO-SVM dapat meningkatkan ketepatan klasifikasi. © 2017 Hameed et al. Ini ialah artikel akses terbuka yang diedarkan di bawah syarat Lesen Atribusi Creative Commons, yang membenarkan penggunaan tanpa had, pengedaran, dan pembiakan dalam mana-mana medium, dengan syarat penulis dan sumber asal dikreditkan.}, nota = {dipetik oleh 11}, kata kunci = {Ketepatan, Algoritma, Artikel, Autisme, Gangguan Spektrum Autisme, Gen CAPS2, Pengelasan (maklumat), Pengelas, Kajian Eksperimen, Gen, Ekspresi Gen, Pengenalan Gen, Persatuan Genetik, Prosedur Genetik, Risiko Genetik, Genetik, Algoritma Mesin Vektor Sokongan Pengoptimuman Zarah Perduaan Perduaan Geometri, Manusia, Penilaian risiko, Penyeragaman, Penapis Statistik, Parameter Statistik, Statistik, Mesin Vektor Sokongan}, pubstate = {diterbitkan}, tppubtype = {artikel} } Dalam kerja ini, ekspresi gen dalam gangguan spektrum autisme (ASD) dianalisis dengan matlamat untuk memilih gen yang paling dikaitkan dan melaksanakan pengelasan. Objektif ini dicapai dengan menggunakan gabungan pelbagai penapis statistik dan mesin vektor sokongan pengoptimuman zarah binari geometri berasaskan pembalut (GBPSO-SVM) algoritma. Penggunaan penapis yang berbeza telah diserlahkan dengan memasukkan kriteria nisbah min dan median untuk membuang gen yang sangat serupa. Keputusan menunjukkan bahawa gen yang paling diskriminatif yang dikenal pasti dalam langkah pemilihan pertama dan terakhir termasuk kehadiran gen berulang. (CAPS2), yang ditugaskan sebagai gen yang paling berkaitan dengan risiko ASD. Subset gen gabungan yang dipilih oleh algoritma GBPSO-SVM dapat meningkatkan ketepatan klasifikasi. © 2017 Hameed et al. Ini ialah artikel akses terbuka yang diedarkan di bawah syarat Lesen Atribusi Creative Commons, yang membenarkan penggunaan tanpa had, pengedaran, dan pembiakan dalam mana-mana medium, dengan syarat penulis dan sumber asal dikreditkan. |
Shuib, S; Saaid, N N; Zakaria, DENGAN; Ismail, J; Latiff, Abdul Z Penduaan 17p11.2 (Sindrom Potocki-Lupski) pada kanak-kanak yang mengalami kelewatan perkembangan Artikel Jurnal Jurnal Patologi Malaysia, 39 (1), hlm. 77-81, 2017, ISSN: 01268635, (dipetik oleh 0). Abstrak | Pautan | BibTeX | Tag: Keabnormalan, Agarose, Artikel, Autisme, Gangguan Spektrum Autisme, Budaya Darah, Laporan kes, Anak-anak, Kromosom 17, Analisis Kromosom, Gangguan Kromosom, Penduaan Kromosom, Kromosom, Artikel Klinikal, Hibridisasi Genomik Perbandingan, Kelewatan Perkembangan, Elektroforesis, Perempuan, Pendarfluor, Pendarfluor dalam Hibridisasi Situ, Gen, Pengenalan Gen, Genetik, DNA genomik, Manusia, Hibridisasi In Situ, Kultur Limfosit, Analisis Mikroarray, Pelbagai, Sindrom Malformasi Pelbagai, berpasangan 17, Fenotip, Sindrom Potocki Lupski, Prasekolah, Kanak-kanak Prasekolah, Prosedur, Gen RAI1, Spektrofotometri ultraungu @artikel{Shuib201777, tajuk = {Penduaan 17p11.2 (Sindrom Potocki-Lupski) pada kanak-kanak yang mengalami kelewatan perkembangan}, pengarang = {S Shuib and N N Saaid and Z Zakaria and J Ismail and Z Abdul Latiff}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85037028880&rakan kongsi = 40&md5=624b87d1e9ebac2d1bf66b4d30c0f6e9}, terbitan = {01268635}, tahun = {2017}, tarikh = {2017-01-01}, jurnal = {Jurnal Patologi Malaysia}, isi padu = {39}, nombor = {1}, halaman = {77-81}, penerbit = {Persatuan Pakar Patologi Malaysia}, abstrak = {Sindrom Potocki-Lupski (PTLS), juga dikenali sebagai sindrom duplikasi 17p11.2, trisomi 17p11.2 atau dup(17)(p11.2p11.2) sindrom, adalah gangguan perkembangan dan sindrom gen bersebelahan yang jarang menjejaskan 1 dalam 20,000 kelahiran hidup. Antara ciri utama pesakit tersebut ialah gangguan spektrum autisme, ketidakupayaan pembelajaran, kelewatan perkembangan, gangguan kurang perhatian, hipotonia bayi dan keabnormalan kardiovaskular. Kajian terdahulu menggunakan microarray mengenal pasti variasi dalam saiz dan takat kawasan pendua kromosom 17p11.2. Walau bagaimanapun, terdapat beberapa gen yang dianggap sebagai calon PTLS termasuk RAI1, SREBF1, DRG2, LLGL1, SHMT1 dan ZFP179. Dalam laporan ini, kami menyiasat kes seorang kanak-kanak perempuan berumur 3 tahun yang mengalami kelewatan perkembangan. Analisis kromosomnya menunjukkan karyotype normal (46,XX). Analisis menggunakan tatasusunan CGH (4X44 K, Agilent USA) mengenal pasti pertindihan ~4.2 Mb de novo dalam kromosom 17p11.2. Hasilnya disahkan oleh hibridisasi in situ pendarfluor (IKAN) menggunakan probe di kawasan PTLS kritikal. Laporan ini menunjukkan kepentingan microarray dan FISH dalam diagnosis PTLS. © 2017, Persatuan Pakar Patologi Malaysia. Hak cipta terpelihara.}, nota = {dipetik oleh 0}, kata kunci = {Keabnormalan, Agarose, Artikel, Autisme, Gangguan Spektrum Autisme, Budaya Darah, Laporan kes, Anak-anak, Kromosom 17, Analisis Kromosom, Gangguan Kromosom, Penduaan Kromosom, Kromosom, Artikel Klinikal, Hibridisasi Genomik Perbandingan, Kelewatan Perkembangan, Elektroforesis, Perempuan, Pendarfluor, Pendarfluor dalam Hibridisasi Situ, Gen, Pengenalan Gen, Genetik, DNA genomik, Manusia, Hibridisasi In Situ, Kultur Limfosit, Analisis Mikroarray, Pelbagai, Sindrom Malformasi Pelbagai, berpasangan 17, Fenotip, Sindrom Potocki Lupski, Prasekolah, Kanak-kanak Prasekolah, Prosedur, Gen RAI1, Spektrofotometri ultraungu}, pubstate = {diterbitkan}, tppubtype = {artikel} } Sindrom Potocki-Lupski (PTLS), juga dikenali sebagai sindrom duplikasi 17p11.2, trisomi 17p11.2 atau dup(17)(p11.2p11.2) sindrom, adalah gangguan perkembangan dan sindrom gen bersebelahan yang jarang menjejaskan 1 dalam 20,000 kelahiran hidup. Antara ciri utama pesakit tersebut ialah gangguan spektrum autisme, ketidakupayaan pembelajaran, kelewatan perkembangan, gangguan kurang perhatian, hipotonia bayi dan keabnormalan kardiovaskular. Kajian terdahulu menggunakan microarray mengenal pasti variasi dalam saiz dan takat kawasan pendua kromosom 17p11.2. Walau bagaimanapun, terdapat beberapa gen yang dianggap sebagai calon PTLS termasuk RAI1, SREBF1, DRG2, LLGL1, SHMT1 dan ZFP179. Dalam laporan ini, kami menyiasat kes seorang kanak-kanak perempuan berumur 3 tahun yang mengalami kelewatan perkembangan. Analisis kromosomnya menunjukkan karyotype normal (46,XX). Analisis menggunakan tatasusunan CGH (4X44 K, Agilent USA) mengenal pasti pertindihan ~4.2 Mb de novo dalam kromosom 17p11.2. Hasilnya disahkan oleh hibridisasi in situ pendarfluor (IKAN) menggunakan probe di kawasan PTLS kritikal. Laporan ini menunjukkan kepentingan microarray dan FISH dalam diagnosis PTLS. © 2017, Persatuan Pakar Patologi Malaysia. Hak cipta terpelihara. |
Hakim, N H A; Majlis, B Y; Suzuki, H; Tsukahara, T Neuron-specific splicing Artikel Jurnal BioScience Trends, 11 (1), hlm. 16-22, 2017, ISSN: 18817815, (dipetik oleh 0). Abstrak | Pautan | BibTeX | Tag: Alternative RNA Splicing, Alternative Splicing, Haiwan, Antibody Specificity, Biological, Biological Model, Penyakit, Genetik, Manusia, Metabolisme, Models, Nerve Cell, Neurons, Organ Specificity, RNA Splicing @artikel{Hakim201716, tajuk = {Neuron-specific splicing}, pengarang = {N H A Hakim and B Y Majlis and H Suzuki and T Tsukahara}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85014435502&doi=10.5582%2fbst.2016.01169&rakan kongsi = 40&md5=8a5044dbf3b905fc2553520a048bcd59}, doi = {10.5582/bst.2016.01169}, terbitan = {18817815}, tahun = {2017}, tarikh = {2017-01-01}, jurnal = {BioScience Trends}, isi padu = {11}, nombor = {1}, halaman = {16-22}, penerbit = {International Advancement Center for Medicine and Health Research Co., Ltd.}, abstrak = {During pre-mRNA splicing events, introns are removed from the pre-mRNA, and the remaining exons are connected together to form a single continuous molecule. Alternative splicing is a common mechanism for the regulation of gene expression in eukaryotes. More than 90% of human genes are known to undergo alternative splicing. The most common type of alternative splicing is exon skipping, which is also known as cassette exon. Other known alternative splicing events include alternative 5' splice sites, alternative 3' splice sites, intron retention, and mutually exclusive exons. Alternative splicing events are controlled by regulatory proteins responsible for both positive and negative regulation. Dalam ulasan ini, we focus on neuronal splicing regulators and discuss several notable regulators in depth. Sebagai tambahan, we have also included an example of splicing regulation mediated by the RBFox protein family. Akhir kata, as previous studies have shown that a number of splicing factors are associated with neuronal diseases such as Alzheime's disease (AD) and Autism spectrum disorder (ASD), here we consider their importance in neuronal diseases wherein the underlying mechanisms have yet to be elucidated.}, nota = {dipetik oleh 0}, kata kunci = {Alternative RNA Splicing, Alternative Splicing, Haiwan, Antibody Specificity, Biological, Biological Model, Penyakit, Genetik, Manusia, Metabolisme, Models, Nerve Cell, Neurons, Organ Specificity, RNA Splicing}, pubstate = {diterbitkan}, tppubtype = {artikel} } During pre-mRNA splicing events, introns are removed from the pre-mRNA, and the remaining exons are connected together to form a single continuous molecule. Alternative splicing is a common mechanism for the regulation of gene expression in eukaryotes. More than 90% of human genes are known to undergo alternative splicing. The most common type of alternative splicing is exon skipping, which is also known as cassette exon. Other known alternative splicing events include alternative 5' splice sites, alternative 3' splice sites, intron retention, and mutually exclusive exons. Alternative splicing events are controlled by regulatory proteins responsible for both positive and negative regulation. Dalam ulasan ini, we focus on neuronal splicing regulators and discuss several notable regulators in depth. Sebagai tambahan, we have also included an example of splicing regulation mediated by the RBFox protein family. Akhir kata, as previous studies have shown that a number of splicing factors are associated with neuronal diseases such as Alzheime's disease (AD) and Autism spectrum disorder (ASD), here we consider their importance in neuronal diseases wherein the underlying mechanisms have yet to be elucidated. |
2015 |
Haerian, B S; Shaári, H M; Tan, H J; Fong, C Y; Wong, S W; Ong, L C; Raymond, A A; Tan, C T; Mohamed, DENGAN Genomics, 105 (4), hlm. 229-236, 2015, ISSN: 08887543, (dipetik oleh 5). Abstrak | Pautan | BibTeX | Tag: Remaja, Dewasa, Artikel, Case-Control Studies, Kajian Terkawal, DNA, Epilepsi, Epistasis, Perempuan, Gen, Gene Interaction, Genetic Polymorphism, Kecenderungan Genetik, Kecenderungan Genetik kepada Penyakit, Risiko Genetik, Genetic Variability, Genetik, Genotype, Group F, Manusia, Kajian Klinikal Utama, Malaysia, Lelaki, Member 1, Member 2, Pertengahan umur, Nav1.1 Voltage-Gated Sodium Channel, Nuclear Receptor Subfamily 1, Polimorfisme, Jurnal Keutamaan, Retinoid Related Orphan Receptor Alpha, Retinoid Related Orphan Receptor Beta, Risk, RORA Gene, RORA Protein, RORB Protein, SCN1A Gene, SCN1A Protein, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal, Sodium Channel Nav1.1, Dewasa Muda @artikel{Haerian2015229, tajuk = {RORA gene rs12912233 and rs880626 polymorphisms and their interaction with SCN1A rs3812718 in the risk of epilepsy: A case-control study in Malaysia}, pengarang = {B S Haerian and H M Shaári and H J Tan and C Y Fong and S W Wong and L C Ong and A A Raymond and C T Tan and Z Mohamed}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84924135981&doi=10.1016%2fj.ygeno.2015.02.001&rakan kongsi = 40&md5=209a1720cddfd76bfa515ee8940749d5}, doi = {10.1016/j.ygeno.2015.02.001}, terbitan = {08887543}, tahun = {2015}, tarikh = {2015-01-01}, jurnal = {Genomics}, isi padu = {105}, nombor = {4}, halaman = {229-236}, penerbit = {Academic Press Inc.}, abstrak = {RAR-related orphan receptors A (RORA) and B (RORB) and voltage-gated sodium channel type 1 (SCN1A) genes play critical roles in the regulation of the circadian clock. Evidence has shown an association of RORA and RORB polymorphisms with susceptibility to autism and depression. Oleh itu, we tested the association of RORA rs12912233, rs16943429, rs880626, rs2290430, and rs12900948; RORB rs1157358, rs7022435, rs3750420, and rs3903529; and SCN1A rs3812718 with epilepsy risk in the Malaysians. DNA was genotyped in 1789 subjects (39% epilepsy patients) by using MassARRAY (Sequenom). Significant association was obtained for rs12912233 in Malaysian Chinese (p= 0.003). Interaction between rs12912233-rs880626 and rs3812718 was associated with the epilepsy risk in the subjects overall (p= 0.001). Results show that RORA rs12912233 alone might be a possible risk variant for epilepsy in Malaysian Chinese, but that, together with RORA rs880626 and SCN1A rs3812718, this polymorphism may have a synergistic effect in the epilepsy risk in Malaysians. © 2015 Elsevier Inc.}, nota = {dipetik oleh 5}, kata kunci = {Remaja, Dewasa, Artikel, Case-Control Studies, Kajian Terkawal, DNA, Epilepsi, Epistasis, Perempuan, Gen, Gene Interaction, Genetic Polymorphism, Kecenderungan Genetik, Kecenderungan Genetik kepada Penyakit, Risiko Genetik, Genetic Variability, Genetik, Genotype, Group F, Manusia, Kajian Klinikal Utama, Malaysia, Lelaki, Member 1, Member 2, Pertengahan umur, Nav1.1 Voltage-Gated Sodium Channel, Nuclear Receptor Subfamily 1, Polimorfisme, Jurnal Keutamaan, Retinoid Related Orphan Receptor Alpha, Retinoid Related Orphan Receptor Beta, Risk, RORA Gene, RORA Protein, RORB Protein, SCN1A Gene, SCN1A Protein, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal, Sodium Channel Nav1.1, Dewasa Muda}, pubstate = {diterbitkan}, tppubtype = {artikel} } RAR-related orphan receptors A (RORA) and B (RORB) and voltage-gated sodium channel type 1 (SCN1A) genes play critical roles in the regulation of the circadian clock. Evidence has shown an association of RORA and RORB polymorphisms with susceptibility to autism and depression. Oleh itu, we tested the association of RORA rs12912233, rs16943429, rs880626, rs2290430, and rs12900948; RORB rs1157358, rs7022435, rs3750420, and rs3903529; and SCN1A rs3812718 with epilepsy risk in the Malaysians. DNA was genotyped in 1789 subjects (39% epilepsy patients) by using MassARRAY (Sequenom). Significant association was obtained for rs12912233 in Malaysian Chinese (p= 0.003). Interaction between rs12912233-rs880626 and rs3812718 was associated with the epilepsy risk in the subjects overall (p= 0.001). Results show that RORA rs12912233 alone might be a possible risk variant for epilepsy in Malaysian Chinese, but that, together with RORA rs880626 and SCN1A rs3812718, this polymorphism may have a synergistic effect in the epilepsy risk in Malaysians. © 2015 Elsevier Inc.. |
Gallagher, D; Voronova, A; Zander, M A; Cancun, G I; Bramall, A; Krause, M P; Abad, C; Tekin, M; Neilsen, P M; Callen, D F; Scherer, S W; Pembunuh, G M; Kaplan, D R; Walz, K; Miller, F D Ankrd11 adalah pengatur kromatin yang terlibat dalam autisme yang penting untuk perkembangan saraf Artikel Jurnal Sel Perkembangan, 32 (1), hlm. 31-42, 2015, ISSN: 15345807, (dipetik oleh 52). Abstrak | Pautan | BibTeX | Tag: Asetilasi, Tingkah Laku Haiwan, Sel Haiwan, Haiwan, Protein Ankrd11, Ankyrin, Domain Ulangan Ankyrin yang Mengandungi Protein 11, Artikel, Autisme, Gangguan Spektrum Autisme, Kelakuan, Penanda Biologi, Meletup, Budaya Sel Otak, Kultur sel, Pembezaan Sel, Percambahan Sel, Sel, Kimia, Kromatin, Immunoprecipitation Chromatin, Berbudaya, Protein Mengikat DNA, Microarray DNA, Protein Pengikat DNA, Aktiviti Enzim, Perempuan, Gen, Profil Ekspresi Gen, Penyasaran Gen, Genetik, Histone, Asetilasi Histone, Histone Acetyltransferase, Histone Deacetylase, Histone Deacetylase 3, Deacetylases Histone, Histones, Manusia, Sel Manusia, Imunoprecipitasi, Utusan, Messenger RNA, Metabolisme, Tikus, Tetikus, Murinae, Mus, Pembezaan Sel Saraf, Pembangunan Sistem Saraf, Neurogenesis, Bukan Manusia, Analisis Urutan Array Oligonukleotida, Patologi, Fenotip, Fisiologi, Titik Mutasi, Pasca Terjemahan, Jurnal Keutamaan, Ekspresi Protein, Pemprosesan Protein, Tindak balas Rantai Polimerase Masa Nyata, Tindak balas Rantai Polimerase Transkrip terbalik, Reaksi Rantai Polimerase Transkripsi Berbalik, RNA, Kecil Mengganggu, RNA Mengganggu Kecil, Dadah yang tidak dikelaskan, Barat, Blotting Barat @artikel{Gallagher201531, tajuk = {Ankrd11 adalah pengatur kromatin yang terlibat dalam autisme yang penting untuk perkembangan saraf}, pengarang = {D Gallagher dan A Voronova dan M A Zander dan G I Cancino dan A Bramall dan M P Krause dan C Abad dan M Tekin dan P M Neilsen dan D F Callen dan S W Scherer dan G M Keller dan D R Kaplan dan K Walz dan F D Miller}, url = {https://www.scopus.com/inward/record.uri?eid = 2-s2.0-84922343890&doi = 10.1016% 2fj.devcel.2014.11.031&rakan kongsi = 40&md5 = ad7b8bd3ead790f092e1d8a276d4f25c}, doi = {10.1016/j.devcel.2014.11.031}, terbitan = {15345807}, tahun = {2015}, tarikh = {2015-01-01}, jurnal = {Sel Perkembangan}, isi padu = {32}, nombor = {1}, halaman = {31-42}, penerbit = {Akhbar Sel}, abstrak = {Ankrd11 adalah pengatur kromatin yang berpotensi terlibat dalam perkembangan saraf dan gangguan spektrum autisme (ASD) tanpa fungsi yang diketahui di otak. Di sini, kami menunjukkan bahawa pengurangan Ankrd11 dalam mengembangkan prekursor saraf kortikal manusia atau manusia menyebabkan penurunan percambahan, neurogenesis berkurang, dan kedudukan neuron yang tidak betul. Fenotip selular yang serupa dan tingkah laku seperti ASD yang menyimpang diperhatikan pada tikus Yoda yang membawa mutasi titik dalam domain pengikat HDAC Ankrd11. Selaras dengan peranan untuk Ankrd11 dalam asetilasi histon, Ankrd11 dikaitkan dengan kromatin dan colocalized dengan HDAC3, dan ungkapan dan asetilasi histon gen sasaran Ankrd11 diubah pada pendahulu saraf Yoda. Lebih-lebih lagi, penurunan proliferasi prekursor yang dimediasi oleh Ankrd11 berjaya diselamatkan dengan menghalang aktiviti histon asetiltransferase atau menyatakan HDAC3. Oleh itu, Ankrd11 adalah pengatur kromatin penting yang mengawal asetilasi histon dan ekspresi gen semasa perkembangan saraf, sehingga memberikan penjelasan yang mungkin untuk kaitannya dengan disfungsi kognitif dan ASD. © 2015 Elsevier Inc.}, nota = {dipetik oleh 52}, kata kunci = {Asetilasi, Tingkah Laku Haiwan, Sel Haiwan, Haiwan, Protein Ankrd11, Ankyrin, Domain Ulangan Ankyrin yang Mengandungi Protein 11, Artikel, Autisme, Gangguan Spektrum Autisme, Kelakuan, Penanda Biologi, Meletup, Budaya Sel Otak, Kultur sel, Pembezaan Sel, Percambahan Sel, Sel, Kimia, Kromatin, Immunoprecipitation Chromatin, Berbudaya, Protein Mengikat DNA, Microarray DNA, Protein Pengikat DNA, Aktiviti Enzim, Perempuan, Gen, Profil Ekspresi Gen, Penyasaran Gen, Genetik, Histone, Asetilasi Histone, Histone Acetyltransferase, Histone Deacetylase, Histone Deacetylase 3, Deacetylases Histone, Histones, Manusia, Sel Manusia, Imunoprecipitasi, Utusan, Messenger RNA, Metabolisme, Tikus, Tetikus, Murinae, Mus, Pembezaan Sel Saraf, Pembangunan Sistem Saraf, Neurogenesis, Bukan Manusia, Analisis Urutan Array Oligonukleotida, Patologi, Fenotip, Fisiologi, Titik Mutasi, Pasca Terjemahan, Jurnal Keutamaan, Ekspresi Protein, Pemprosesan Protein, Tindak balas Rantai Polimerase Masa Nyata, Tindak balas Rantai Polimerase Transkrip terbalik, Reaksi Rantai Polimerase Transkripsi Berbalik, RNA, Kecil Mengganggu, RNA Mengganggu Kecil, Dadah yang tidak dikelaskan, Barat, Blotting Barat}, pubstate = {diterbitkan}, tppubtype = {artikel} } Ankrd11 adalah pengatur kromatin yang berpotensi terlibat dalam perkembangan saraf dan gangguan spektrum autisme (ASD) tanpa fungsi yang diketahui di otak. Di sini, kami menunjukkan bahawa pengurangan Ankrd11 dalam mengembangkan prekursor saraf kortikal manusia atau manusia menyebabkan penurunan percambahan, neurogenesis berkurang, dan kedudukan neuron yang tidak betul. Fenotip selular yang serupa dan tingkah laku seperti ASD yang menyimpang diperhatikan pada tikus Yoda yang membawa mutasi titik dalam domain pengikat HDAC Ankrd11. Selaras dengan peranan untuk Ankrd11 dalam asetilasi histon, Ankrd11 dikaitkan dengan kromatin dan colocalized dengan HDAC3, dan ungkapan dan asetilasi histon gen sasaran Ankrd11 diubah pada pendahulu saraf Yoda. Lebih-lebih lagi, penurunan proliferasi prekursor yang dimediasi oleh Ankrd11 berjaya diselamatkan dengan menghalang aktiviti histon asetiltransferase atau menyatakan HDAC3. Oleh itu, Ankrd11 adalah pengatur kromatin penting yang mengawal asetilasi histon dan ekspresi gen semasa perkembangan saraf, sehingga memberikan penjelasan yang mungkin untuk kaitannya dengan disfungsi kognitif dan ASD. © 2015 Elsevier Inc.. |
2014 |
Brett, M; McPherson, J; Vokal, Z J; Lai, A; Tan, E -S; Ng, Saya; Ong, L -C; Cham, B; Tan, P; Bunga mawar, S; Tan, DAN -C PLoS SATU, 9 (4), 2014, ISSN: 19326203, (dipetik oleh 20). Abstrak | Pautan | BibTeX | Tag: Artikel, ATRX Gene, Autisme, Gangguan Spektrum Autisme, Anak-anak, Artikel Klinikal, Congenital Abnormalities, Congenital Malformation, Kajian Terkawal, Diagnostic Test, DNA Mutational Analysis, Perempuan, Gen, Profil Ekspresi Gen, Gene Mutation, Penyasaran Gen, Persatuan Genetik, Genetic Association Studies, Genetic Disorder, Genetic Variability, Genetic Variation, Genetik, Genome-Wide Association Study, High Throughput Sequencing, High-Throughput Nucleotide Sequencing, Manusia, Kecacatan Intelektual, Kemerosotan Intelektual, Karyotype, L1CAM Gene, Lelaki, Mutation, Nonsense Mutation, Nucleotide Sequence, Fenotip, Polimorfisme, RNA Splice Sites, RNA Splicing, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal @artikel{Brett2014, tajuk = {Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel}, pengarang = {M Brett and J McPherson and Z J Zang and A Lai and E -S Tan and I Ng and L -C Ong and B Cham and P Tan and S Rozen and E -C Tan}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84898625023&doi=10.1371/journal.pone.0093409&rakan kongsi = 40&md5=f673e204a009bf84de81ea69dcd026db}, doi = {10.1371/jurnal.pone.0093409}, terbitan = {19326203}, tahun = {2014}, tarikh = {2014-01-01}, jurnal = {PLoS SATU}, isi padu = {9}, nombor = {4}, penerbit = {Perpustakaan Awam Sains}, abstrak = {Developmental delay and/or intellectual disability (DD/ID) affects 1-3% of all children. At least half of these are thought to have a genetic etiology. Recent studies have shown that massively parallel sequencing (MPS) using a targeted gene panel is particularly suited for diagnostic testing for genetically heterogeneous conditions. We report on our experiences with using massively parallel sequencing of a targeted gene panel of 355 genes for investigating the genetic etiology of eight patients with a wide range of phenotypes including DD/ID, congenital anomalies and/or autism spectrum disorder. Targeted sequence enrichment was performed using the Agilent SureSelect Target Enrichment Kit and sequenced on the Illumina HiSeq2000 using paired-end reads. For all eight patients, 81-84% of the targeted regions achieved read depths of at least 20×, with average read depths overlapping targets ranging from 322 × to 798 ×. Causative variants were successfully identified in two of the eight patients: a nonsense mutation in the ATRX gene and a canonical splice site mutation in the L1CAM gene. In a third patient, a canonical splice site variant in the USP9X gene could likely explain all or some of her clinical phenotypes. These results confirm the value of targeted MPS for investigating DD/ID in children for diagnostic purposes. Walau bagaimanapun, targeted gene MPS was less likely to provide a genetic diagnosis for children whose phenotype includes autism. © 2014 Brett et al.}, nota = {dipetik oleh 20}, kata kunci = {Artikel, ATRX Gene, Autisme, Gangguan Spektrum Autisme, Anak-anak, Artikel Klinikal, Congenital Abnormalities, Congenital Malformation, Kajian Terkawal, Diagnostic Test, DNA Mutational Analysis, Perempuan, Gen, Profil Ekspresi Gen, Gene Mutation, Penyasaran Gen, Persatuan Genetik, Genetic Association Studies, Genetic Disorder, Genetic Variability, Genetic Variation, Genetik, Genome-Wide Association Study, High Throughput Sequencing, High-Throughput Nucleotide Sequencing, Manusia, Kecacatan Intelektual, Kemerosotan Intelektual, Karyotype, L1CAM Gene, Lelaki, Mutation, Nonsense Mutation, Nucleotide Sequence, Fenotip, Polimorfisme, RNA Splice Sites, RNA Splicing, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal}, pubstate = {diterbitkan}, tppubtype = {artikel} } Developmental delay and/or intellectual disability (DD/ID) affects 1-3% of all children. At least half of these are thought to have a genetic etiology. Recent studies have shown that massively parallel sequencing (MPS) using a targeted gene panel is particularly suited for diagnostic testing for genetically heterogeneous conditions. We report on our experiences with using massively parallel sequencing of a targeted gene panel of 355 genes for investigating the genetic etiology of eight patients with a wide range of phenotypes including DD/ID, congenital anomalies and/or autism spectrum disorder. Targeted sequence enrichment was performed using the Agilent SureSelect Target Enrichment Kit and sequenced on the Illumina HiSeq2000 using paired-end reads. For all eight patients, 81-84% of the targeted regions achieved read depths of at least 20×, with average read depths overlapping targets ranging from 322 × to 798 ×. Causative variants were successfully identified in two of the eight patients: a nonsense mutation in the ATRX gene and a canonical splice site mutation in the L1CAM gene. In a third patient, a canonical splice site variant in the USP9X gene could likely explain all or some of her clinical phenotypes. These results confirm the value of targeted MPS for investigating DD/ID in children for diagnostic purposes. Walau bagaimanapun, targeted gene MPS was less likely to provide a genetic diagnosis for children whose phenotype includes autism. © 2014 Brett et al. |