Recurrent genetic deletion linked to autism
Loss of a small part of chromosome number 16, (16p11.2), is linked with autism researchers report (University of Illinois at Chicago, University of Chicago Medical Center, and the Roswell Park Cancer Institute)
Researchers think that the 16p11.2 microdeletions may be a risk factor for autism spectrum disorders and may cause mild autism in some families.This deletion results in the loss of 25 known genes. Twelve of these genes are probably part of a genetic network that are involved in cell-to-cell signaling. Three of the missing genes are expressed in the brain and are believed to influence behavior.
To detect genes associated with autism, the researchers scanned the entire genomes of 180 subjects with autism seeking submicroscopic pieces of DNA that were either abnormal in patients diagnosed with autism. They found that 1.1% had a deletion in region 16p11.2.
The most well known genetic cause of autism, that is linked to between 1 to 3% of cases, is a much larger duplication of a portion of chromosome 15, and it involves about 12 genes. The chromosome 15 abnormality is associated with autism as well as intellectual disability. The chromosome 16 deletion, on the other hand , is not always associated with intellectual disability.
Wikipedia has a nice listing of diseases that have genetic links to human chromosome 16
