More SHANK3 Mutations in Mild Autism Cases

Mutations in SHANK3, a leading autism risk gene, occur in roughly two percent of individuals with autism spectrum disorders, according to a study published 15 August in the European Journal of Human Genetics.Researchers first linked the gene to autism in 2007, when they found several children with autism who carry SHANK3 mutations. Several reports since then have estimated that about one percent of individuals with autism have SHANK3 mutations.SHANK3 encodes a protein that’s crucial for proper functioning of the synapse, the junction between neurons. Mice with glitches in the gene show a range of symptoms reminiscent of autism, including abnormal social interactions and repetitive behaviors.In the new study, researchers screened 221 individuals with autism spectrum disorders — 133 from South Carolina and 88 from Italy — and 982 controls. They sequenced SHANK3 letter by letter and, in individuals carrying SHANK3 glitches, also screened for large DNA deletions and duplications in the rest of the genome.Read more at...SFARI, October 2012.