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Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID.

Molecular autism | 2015

SHANK proteins are crucial for the formation and plasticity of excitatory synapses. Although mutations in all three SHANK genes are associated with autism spectrum disorder (ASD), SHANK3 appears to be the major ASD gene with a prevalence of approximately 0.5% for SHANK3 mutations in ASD, with higher rates in individuals with ASD and intellectual disability (ID). Interestingly, the most relevant mutations are typically de novo and often are frameshift or nonsense mutations resulting in a premature stop and a truncation of SHANK3 protein.

Pubmed ID: 26045941 RIS Download

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Associated grants

  • Agency: NIMH NIH HHS, United States
    Id: R01 MH093725
  • Agency: NIMH NIH HHS, United States
    Id: R01 MH101584
  • Agency: NIMH NIH HHS, United States
    Id: R34 MH100276

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