Autism study validates importance of spontaneous causal mutations and sheds new light on gender skew

Wednesday, June 8, 2011 - 12:30 in Psychology & Sociology

A clinically extensive and mathematically powerful study of 1000 families with one autistic child and one unaffected sibling has validated a controversial theory of autism's complex genetic causation. The study for the first time estimates the minimum number of locations in the human genome -- 250 to 300 -- where gene copy number variation (CNV) can give rise to autism spectrum disorder (ASD). It also sheds new light on the long observed but little understood "gender bias" of autism, an illness that typically manifests by age 3 and affects about four times more boys than girls.

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