Whole-exome Sequencing Identifies Inherited Mutations in Autism

The following research study is interesting, especially for those of us fascinated with the topics of autism and genetics.



While autism clearly runs in some families, few inherited genetic causes have been found. A major reason is that these causes are so varied that it’s hard to find enough people with a given mutation to establish a clear pattern. Researchers at Boston Children’s Hospital have pinpointed several inherited mutations—among the first to be identified—through an unusual approach: using whole-exome sequencing to study large Middle Eastern families with autism.

The study, published in the January 23 issue of the journal Neuron, also found evidence for some of the same mutations in U.S. families. It shows that a number of genes implicated in severe genetic syndromes can have milder mutations that primarily cause autism, and could broaden the number of genetic tests available to families.

Researchers Tim Yu, MD, PhD, Maria Chahrour, PhD, and senior investigator Christopher Walsh, MD, PhD, of Boston Children’s Hospital, began with three large Middle Eastern families that had two or more children with autism spectrum disorders (ASDs), looking for recessive mutations—those requiring a “double hit” for the child to have an ASD.”

Read the entire release: Whole-exome Sequencing Identifies Inherited Mutations in Autism

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Melissa is the mother of two children on the autism spectrum and strives to provide information about all aspects of autism through her blog, The Autism Education Site. Follow Melissa on Twitter. Like me on Facebook.

© Melissa Hincha-Ownby and The Autism Education Site, 2008-2014.

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