Copy number variation could be an important factor in autism, according to a new study published in Science today (March 15).The largest percentage of copy number mutations occurred in families with one autistic child, the so-called sporadic, or spontaneously occurring cases -- not in families with multiple autistic children, indicating genetic inheritance. Autism is widely recognized to be a genetic disorder, but this study focused on de novo genetic mutations (those present in the child but not the parents), rather than inherited mutations. "The majority of genetic studies to date have focused on the minority of families with multiple affected kids," study author Jonathan Sebat of Cold Spring Harbor Laboratory in New York told The Scientist. Until recently it hadn't been recognized that "the sporadic cases might be a rich source of genetic information," he said.This study is part of a growing shift in the focus of study in...
James R. Lupskiwhat they are findingCharles Leesurveyed CNVs in the general populationSebatmail@the-scientist.comThe Scientisthttp://www.the-scientist.com/article/display/23372Sciencexpresshttp://www.sciencemag.orghttp://gradschool.cshl.edu/sebat_.htmlhttp://imgen.bcm.tmc.edu/molgen/lupski/lupski_james.htmlPLoS Genethttp://www.the-scientist.com/pubmed/16444292http://labmed.bwh.harvard.edu/pathology/Faculty/Charles_Lee.htmNaturehttp://www.the-scientist.com/pubmed/17122850The Scientisthttp://www.the-scientist.com/article/display/15302/
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