More gene mutations linked to autism risk

The findings were published in the June 26 edition of the journal PloS Genetics.

By further refining the genetic landscape of ASDs, the current study expands the findings of two large autism gene studies published in April, led by Hakonarson and co-authored by Gerard Schellenberg, Ph.D., professor of Pathology and Laboratory Medicine at the University of Pennsylvania School of Medicine, Bucan and others. One study was the first to report common gene variants in ASDs. The other identified copy number variants that raise the risk of having an ASD. Both studies found gene changes on two biological pathways with crucial roles in early central nervous system development. Hakonarson and Bucan said the latest findings reinforce the view that multiple gene variants, both common and rare, may be interacting to cause the heterogeneous group of disorders included under autism spectrum disorders.

AGRE, a program of Autism Speaks, provided genetic biomaterials and clinical data from families having more than one member diagnosed with an ASD. Blood samples donated by children and their families at Children's Hospital were used as healthy controls. AGRE makes data publicly available to qualified researchers worldwide.

About The Children's Hospital of Philadelphia

The Children's Hospital of Philadelphia was founded in 1855 as the nation's first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals and pioneering major research initiatives, Children's Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country, ranking second in National Institutes of Health funding. In addition, its unique family-centered care and public service programs have brought the 430-bed hospital recognition as a leading advocate for children and adolescents. For more information, visit http://www.chop.edu.

About Autism Speaks

Autism Speaks is the nation's largest autism science and advocacy organization, dedicated to funding research into the causes, prevention, treatments and a cure for autism; increasing awareness of autism spectrum disorders; and advocating for the needs of individuals with autism and their families. Autism Speaks funds more than $30 million each year in new autism research, in addition to supporting the Autism Treatment Network, Autism Genetic Resource Exchange, Autism Clinical Trials Network, Autism Tissue Program and a range of other scientific and medical programs. To learn more about the Autism Genome Resource Exchange (AGRE), please visit http://www.autismspeaks.org/science/programs/agre/index.php. To learn more about Autism Speaks, please visit www.AutismSpeaks.org.