New Information About the Genetic Basis for Autism

This enormous study confirms some linkage and copy number variations and identifies a new linkage area and a new gene involved in autism.

Genome-wide linkage screening for autism-susceptible loci has identified chromosomes in the regions of 2q, 7q, and 17q. In addition, fragile X, Prader-Willi, and Angelman syndromes have been found to be commonly associated with autism spectrum disorder (ASD). To identify the many genes and chromosome regions involved in autism, the international Autism Genome Project Consortium performed the largest study to date of linkage and copy number variation analysis in members of 1168 families with at least two family members affected by ASD.

Using Affymetrix chips with single nucleotide polymorphisms, investigators identified a larger percentage of families (11.5%) with chromosomal copy number variations (microdeletions or duplications) than in pri…

Reviewing Author

Judith G. Hall, OC, MD