Whole-Exome Sequencing Identifies Inherited Mutations in Autism
[Source: Science Daily]
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 Rest of this Article on Science Daily.com
PediaStaff is Hiring!All Jobs
PediaStaff hires pediatric and school-based professionals nationwide for contract assignments of 2 to 12 months. We also help clinics, hospitals, schools, and home health agencies to find and hire these professionals directly. We work with Speech-Language Pathologists, Occupational and Physical Therapists, School Psychologists, and others in pediatric therapy and education.