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Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases
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نویسنده
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Luo Xiaomei ,Zou Yongyi ,Tan Bo ,Zhang Yue ,Guo Jing ,Zeng Lanlan ,Zhang Rui ,Tan Hu ,Wei Xianda ,Hu Yiqiao ,Zheng Yu ,Liang Desheng ,Wu Lingqian
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منبع
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journal of human genetics - 2017 - دوره : 62 - شماره : 4 - صفحه:513 -516
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چکیده
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Gata zinc finger domain-containing 2b (gatad2b) is a subunit of the methyl-cpg-binding protein-1 complex (mecp1), which deacetylates methylated nucleosomes and regresses transcriptional activity. recently, gatad2b has been elucidated as a candidate gene in patients with intellectual disability (id). in this study, we identified two novel heterozygous frameshift mutations of gatad2b in two unrelated id cases through next-generation sequencing (ngs). both of the mutations c.80_81insgatgt and c.552_555delgaaa cause truncated proteins that might be detrimental to neurodevelopment. we performed western blotting and observed a reduction in the target protein compared with normal controls. this is the first report of gatad2b in chinese id patients. our findings will broaden the spectrum of gatad2b mutations and facilitate genetic diagnosis and counseling.
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آدرس
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Central South University, State Key Laboratory of Medical Genetics, China, Central South University, State Key Laboratory of Medical Genetics, China, Central South University, State Key Laboratory of Medical Genetics, China, Central South University, State Key Laboratory of Medical Genetics, China, Central South University, State Key Laboratory of Medical Genetics, China, Central South University, State Key Laboratory of Medical Genetics, China, Central South University, State Key Laboratory of Medical Genetics, China, Central South University, State Key Laboratory of Medical Genetics, China, Central South University, State Key Laboratory of Medical Genetics, China, Central South University, State Key Laboratory of Medical Genetics, China, Central South University, State Key Laboratory of Medical Genetics, China, Central South University, State Key Laboratory of Medical Genetics, China. Hunan Jiahui Genetics Hospital, China, Central South University, State Key Laboratory of Medical Genetics, China. Hunan Jiahui Genetics Hospital, China
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Authors
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