Using a novel, state-of-the-art approach called array comparative genomic hybridization (aCGH), researchers have recently discovered a small deletion containing 24 genes on Chromosome 16p11.2 that represents one of the most frequent chromosomal abnormalities described in autism to date. In the proposed study, Dr. Kumar will extend this finding by selecting the most promising candidate genes for involvement in autism from this newly identified 16p11.2 chromosomal region. These genes will be examined in patients to search for the presence of mutations significantly associated with autism. In addition, aCGH will be used to identify additional novel submicroscopic chromosomal rearrangements in a sample of approximately 300 patients with autism who have not been previously tested for these abnormalities. The identification of novel candidate genes and chromosomal abnormalities in patients with autism will further our understanding of the genetic factors conferring risk of autism and may improve the accuracy of diagnostic tests for this disorder.
Interagency Autism Coordinating Committee (IACC)
Autism Research Database (AFD)
