Article
A double hit implicates DIAPH3 as an autism risk gene.
Molecular psychiatry - 1 Apr 2011
Vorstman J A S, van Daalen E, Jalali G R, Schmidt E R E, Pasterkamp R J, de Jonge M, Hennekam E A M, Janson E, Staal W G, van der Zwaag B, Burbach J P H, Kahn R S, Emanuel B S, van Engeland H, Ophoff R A
Abstract excerpt
Recent studies have shown that more than 10% of autism cases are caused by de novo structural genomic rearrangements. Given that some heritable copy number variants (CNVs) have been observed in patients as well as in healthy controls, to date little attention has been paid to the potential function of these non-de novo CNVs in causing autism. A normally intelligent patient with autism, with non-affected parents,...
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