Autism: Your Questions Answered

In early 2008, UCLA scientists announced the identification of a new gene, CNTNAP2, linked to autism. CNTNAP2 is most active in developing brain structures that are involved with language and thought. Evidence for the genetic link came from DNA of families with autistic boys, not those with autistic girls. The scientists surmised that this may explain why autism occurs in boys more often than girls. Subsequent research found that mutation or variation of CNTNAP2, also called chromosome 7, translated to an inherited risk for autism. A spontaneous and rarer form of autism was associated with either missing or duplicate copies of about 25 genes in the chromosome 16 area.