More gene mutations linked to autism risk

Thursday, June 25, 2009 - 18:07 in Biology & Nature

More pieces in the complex autism inheritance puzzle are emerging in the latest study from a research team including geneticists from The Children's Hospital of Philadelphia, the University of Pennsylvania School of Medicine and several collaborating institutions. This study identified 27 different genetic regions where rare copy number variations - missing or extra copies of DNA segments - were found in the genes of children with autism spectrum disorders (ASDs), but not in the healthy controls. The complex combination of multiple genetic duplications and deletions is thought to interfere with gene function, which can disrupt the production of proteins necessary for normal neurological development.

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