Possible Genetic Link to Autism Identified

In boys, the gene variation was associated with about a 15% increased risk, study finds

URL of this page: http://www.nlm.nih.gov/medlineplus/news/fullstory_118345.html
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By Robert Preidt

Friday, November 4, 2011 HealthDay Logo

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FRIDAY, Nov. 4 (HealthDay News) -- A gene variation associated with an increased risk of autism in boys has been identified by scientists.

Boys are three to four times more likely than girls to be affected by autism.

In this study, U.S. researchers analyzed genomic data from more than 3,000 children with autism and their family members, as well as children without autism.

The results showed a link between a variation in the gene for transducin beta-like 1X-linked (TBL1X) and an increased risk of autism spectrum disorders (ASD) in boys. TBL1X is part of the Wnt-signaling pathway involved in the system that controls embryonic neurological development and the maintenance of brain function in adults.

The study is published in the Nov. 3 online edition of the journal Molecular Autism.

"The [variation] in TBL1X is associated with an increase in risk for ASD of about 15 percent. This could reflect either an unidentified rare mutation (or mutations), which has large impact, or a more common change with a more subtle effect, on the development of ASD," study leader Eden Martin, of the Hussman Institute for Human Genomics at the University of Miami Miller School of Medicine, said in a journal news release.

"Further study of TBL1X will help us to pinpoint the DNA changes involved and help us to understand exactly how these changes and the Wnt-signaling pathway is involved in ASD," Martin added.

Autism affects about one in 110 children and can cause problems in language, communication and understanding other people's emotional cues.

SOURCE: Molecular Autism, news release, Nov. 3, 2011

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