Only Subset of Chromosome 16 Variants Linked to Autism

Deletions or duplications of chromosomal segment 16p11.2 — previously reported as a key autism region — are seen in people with developmental delays and speech and behavioral problems, but not necessarily autism. That's the finding from two large studies published last week of people carrying these rare genetic variations.The results suggest that variants in the 16p11.2 region — referred to briefly as 16p — must pair with other genetic or environmental factors to cause the full-blown social deficits and stereotyped behaviors seen in autism, the researchers say."We are trying to make it clear that the association with autism is there, but also to be open-minded to other conditions that are associated with this rearrangement," says Marwan Shinawi, an investigator on one of the studies, led by researchers at Baylor College of Medicine in Houston, Texas.Read more at...SFARI, November 2009.