A new approach to investigating hard-to-find chromosomal abnormalities has identified 33 genes associated with autism and related disorders, 22 for the first time. (Credit: © lily / Fotolia)
ScienceDaily — A new approach to investigating hard-to-find chromosomal abnormalities has identified 33 genes associated with autism and related disorders, 22 for the first time. Several of these genes also appear to be altered in different ways in individuals with psychiatric disorders such as schizophrenia, symptoms of which may begin in adolescence or adulthood. Results of the study by a multi-institutional research team will appear in the April 27 issue of Cell and have been released online.
“By sequencing the genomes of a group of children with neurodevelopmental abnormalities, including autism, who were also known to have abnormal chromosomes, we identified the precise points where the DNA strands are disrupted and segments exchanged within or between chromosomes. As a result, we were able to discover a series of genes that have a strong individual impact on these disorders,” says James Gusella, PhD, director of the Massachusetts General Hospital Center for Human Genetic Research (MGH CHGR) and senior author of the Cell paper. “We also found that many of these genes play a role in diverse clinical situations — from severe intellectual disability to adult-onset schizophrenia — leading to the conclusion that these genes are very sensitive to even subtle perturbations.”
Physicians evaluating children with neurodevelopmental abnormalities often order tests to examine their chromosomes, but while these tests can detect significant abnormalities in chromosomal structure, they typically cannot identify a specific gene as being disrupted. Structural variants known as balanced chromosome abnormalities (BCAs) — in which DNA segments are moved into different locations in the same chromosome or exchanged with segments in other chromosomes, leaving the overall size of the chromosomes unchanged — are known to be significantly more common in individuals with autism spectrum disorders than in a control population. Several years ago Gusella and Cynthia Morton, PhD, of Brigham and Women’s Hospital initiated the Developmental Genome Anatomy Project to identify developmentally important genes by investigating BCAs, but the task of identifying specific chromosome breakpoints has been slow and laborious.