Unmasking a novel disease gene NEO1 associated with autism spectrum disorders by a hemizygous deletion on chromosome 15 and a functional polymorphism
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- 作者：Wai-Kwan Siua ; b ; Ching-Wan Lama ; ching-wanlam@pathology.hku.hk" class="auth_mail" title="E-mail the corresponding author ; Wei-Wei Gaoc ; Hei-Man Vincent Tangc ; Dong-Yan Jinc ; Chloe Miu Makb
- 关键词：ASD ; autism spectrum disorders ; bp ; base pair ; CGH ; comparative genomic hybridization ; DAPI ; 4&prime ; 6-diamidino-2-phenylindone ; GFP ; green fluorescent protein ; Mb ; megabase pair ; NeICD ; neogenin intracellular domain ; NLS ; nuclear localization signal ; LMB ; leptomycin B ; OMIM ; online mendelian inheritance in man ; PCR ; polymerase chain reaction ; RGMa ; repulsive guidance molecule A
- 刊名：Behavioural Brain Research
- 出版年：2016
- 出版时间：1 March 2016
- 年：2016
- 卷：300
- 期：Complete
- 页码：135-142
- 全文大小：1704 K
文摘
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Two NEO1 missense mutations were identified in autism spectrum disorders (ASD).
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In silico analyses predicted both missense mutations as pathogenic.
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Defective nuclear translocation of the neogenin intracellular domain was shown.
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NEO1-associated autism is inherited in an autosomal recessive manner.
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NEO1 is important in axon guidance of neuronal migration.