Contribution of SHANK3 mutations to autism spectrum disorder by Moessner Rainald, Marshall Christian R, Sutcliffe James S, Skaug Jennifer, Pinto Dalila, Vincent John, Zwaigenbaum Lonnie, Fernandez Bridget, Roberts Wendy, Szatmari Peter, Scherer Stephen W in American journal of human genetics (2007).

[PMID: 17999366] PubMed


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 characterized in two ASD-affected siblings from another collection, which brings the total number of published mutations in unrelated ASD-affected families to seven. The combined data provide support that haploinsufficiency of SHANK3 can cause a monogenic form of autism in sufficient frequency to warrant consideration in clinical diagnostic testing.

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