Ontology highlight
ABSTRACT:
SUBMITTER: Moessner R
PROVIDER: S-EPMC2276348 | biostudies-literature | 2007 Dec
REPOSITORIES: biostudies-literature
American journal of human genetics 20071016 6
Mutations in SHANK3, which encodes a synaptic scaffolding protein, have been described in subjects with an autism spectrum disorder (ASD). To assess the quantitative contribution of SHANK3 to the pathogenesis of autism, we determined the frequency of DNA sequence and copy-number variants in this gene in 400 ASD-affected subjects ascertained in Canada. One de novo mutation and two gene deletions were discovered, indicating a contribution of 0.75% in this cohort. One additional SHANK3 deletion was ...[more]