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Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.

Nature genetics | Jun 26, 2010

http://www.ncbi.nlm.nih.gov/pubmed/20473310

Using microarrays, we identified de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and mental retardation. DNA sequencing of SHANK2 in 396 individuals with ASD, 184 individuals with mental retardation and 659 unaffected individuals (controls) revealed additional variants that were specific to ASD and mental retardation cases, including a de novo nonsense mutation and seven rare inherited changes. Our findings further link common genes between ASD and intellectual disability.

Pubmed ID: 20473310 RIS Download

Mesh terms: Child | Child Development Disorders, Pervasive | Chromosomes, Human, Pair 15 | Female | Genetic Predisposition to Disease | Humans | Intellectual Disability | Male | Mutation | Nerve Tissue Proteins

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Associated grants

  • Agency: Canadian Institutes of Health Research, Id:

Comparative Toxicogenomics Database (Data, Disease Annotation)

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