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Research identifies clinically relevant genetic anomalies in autism patients

CONTACT: Amanda O’Rourke: 570-214-9091
Oct. 16, 2012

DANVILLE, Pa. – Researchers have taken a critical step in improving genetic diagnostic testing for children with autism spectrum disorders by identifying 30 new specific genetic mutations that increase the risk for neurodevelopmental disorders.

Armed with data from more than 30,000 individuals with neurodevelopmental disorders, researchers identified 30 new specific genetic mutations that increase risk for neurodevelopmental disorders. Eighteen of these mutations are found in autism, of which 10 would have been missed using conventional approaches. All of these mutations can now be used as diagnostic markers, thereby providing patients with more specific diagnoses and more personalized treatment.

“Autism spectrum disorders are extremely heterogeneous both in clinical presentation and in underlying genetic causes, with no more than 2 percent of individuals sharing any one genetic etiology,” said David H. Ledbetter, Ph.D. executive vice president and chief scientific officer at Geisinger Health System, and co-author of the study. “These findings have important implications because establishing clear genetic diagnoses helps families to obtain early intervention and services for those with developmental disorders.”

For years, researchers have known that variations in DNA structure, called copy number variations (CNVs), can cause autism. However, CNVs are also often present in normally developing children and children with other neurodevelopmental disorders. For this study, genetic data from more than 30,000 clinical cases was merged to create a powerful new group to analyze for rare CNVs that contribute to neurodevelopmental disorders, including autism. In a second step, researchers compared the statistically significant CNVs from this large group against a group of close to 4,000 autism patients from three of the largest autism collections worldwide. This novel approach allowed investigators to uncover clinically significant CNVs that had been overlooked in previous analyses.

The study was conducted by a collaborative team that included researchers from Emory, Geisinger, UCLA and Yale.

Many of these newly categorized CNVs would not appear frequently enough in existing autism research groups to be considered statistically significant for the group as a whole. But, for individuals in whom these CNVs are found, they are highly relevant, with important implications for clinical care, Dr. Ledbetter said.

Additional authors on the study include Daniel Moreno De Luca, M.D., MSc; Stephan J. Sanders, M.D.; A. Jeremy Willsey, BSc; and Matthew State, M.D., Ph.D., all of Yale University; and Christa L. Martin, Ph.D., Emory University School of Medicine.

The work was funded by the National Institutes of Health and the Simons Foundation with support from the Autism Genetic Resource Exchange (AGRE), a science program of Autism Speaks.

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