AP12730

Autism and the CHD8 Mutation

Today Autism is diagnosed based on a person’s behavior. It is a disorder that affects the brain’s normal development of social and communication skills, and usually appears in the first 3 years of life (U.S. National Library of Medicine, 2012). Around the world 13 institutions were involved with ground breaking news on autism. The clinical director of the Autism Center and the Seattle Children’s Hospital, Raphael Bernier said, “we finally got a clear cut of an autism gene.” The study involved 6,176 children with the autism disorder. Amongst those thousands of children, researchers found that 15 had a CHD8 mutation. Bernier also states that, “people with a mutation in the CHD8 gene have a strong likelihood that they will have autism.” When findings were confirmed, it was the first time researchers had shown a reliable cause of autism to a genetic mutation. “This will be a game changer in the way scientists are researching autism,” Bernier states, “the results could lead the way to a genetic-first approach that could undercover hundreds more genetic material.” In the midst of other gene mutation, the CHD8 mutation is the first to show strong penetrance linked to a certain subtype of autism (University of Washington, 2014).

References:

University of Washington – Health Sciences/UV News, Community Relations & Marketing. (2014, July 3). Genetic link found in autism, known as CHD8 mutation. ScienceDaily. Retrieved July 12, 2014 from [|www.sciencedaily.com/releases/2014/07/140703125851.htm]

U.S. National Library of Medicine. (2012, May 16). Autism. PubMed Health. Retrieved July 12, 2014 from[]

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