Article
Novel de novo SHANK3 mutation in autistic patients.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Apr 2009
Gauthier Julie, Spiegelman Dan, Piton Amélie, Lafrenière Ronald G, Laurent Sandra, St-Onge Judith, Lapointe Line, Hamdan Fadi F, Cossette Patrick, Mottron Laurent, Fombonne Eric, Joober Ridha, Marineau Claude, Drapeau Pierre, Rouleau Guy A
Abstract excerpt
A number of studies have confirmed that genetic factors play an important role in autism spectrum disorder (ASD). More recently de novo mutations in the SHANK3 gene, a synaptic scaffolding protein, have been associated with the ASD phenotype. As part of our gene discovery strategy, we sequenced the SHANK3 gene in a cohort of 427 ASD subjects and 190 controls. Here, we report the identification of two putative...
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