Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID.
作者： Daniela M Cochoy , Alexander Kolevzon , Yuji Kajiwara , Michael Schoen , Maria Pascual-Lucas
DOI: 10.1186/S13229-015-0020-5
关键词: Nonsense mutation 、 Bioinformatics 、 Gene 、 Human genetics 、 Frameshift mutation 、 Intellectual disability 、 Gene mutation 、 Autism spectrum disorder 、 Autism 、 Medicine
摘要: Background SHANK proteins are crucial for the formation and plasticity of excitatory synapses. Although mutations in all three SHANK genes associated with autism spectrum disorder (ASD), SHANK3 appears to be major ASD gene a prevalence approximately 0.5% ASD, higher rates individuals intellectual disability (ID). Interestingly, most relevant typically de novo often frameshift or nonsense resulting premature stop truncation protein.
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