First Full Genome Sequencing for Autism A collaborative formed by Autism Speaks, a science and advocacy organization, has performed full genome sequencing and examined the entire DNA code of people with autism spectrum disorder and their family members. The findings provide evidence that whole-genome sequencing data can aid in the detection and ... From the Journals
From the Journals  |   November 01, 2013
First Full Genome Sequencing for Autism
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Special Populations / Genetic & Congenital Disorders / Autism Spectrum / From the Journals
From the Journals   |   November 01, 2013
First Full Genome Sequencing for Autism
The ASHA Leader, November 2013, Vol. 18, 34. doi:10.1044/leader.FTJ2.18112013.34
The ASHA Leader, November 2013, Vol. 18, 34. doi:10.1044/leader.FTJ2.18112013.34
A collaborative formed by Autism Speaks, a science and advocacy organization, has performed full genome sequencing and examined the entire DNA code of people with autism spectrum disorder and their family members. The findings provide evidence that whole-genome sequencing data can aid in the detection and clinical evaluation of people with ASD, and also provides a look at the wide-ranging genetic variations associated with ASD.
The study, led by Yong-hui Jiang of the Duke University School of Medicine—published online July 11, 2013, in the American Journal of Human Genetics—reports on full genome sequencing of 32 unrelated Canadians with autism and their families.
This dramatic finding of genetic risk variants associated with clinical manifestation of ASD or accompanying symptoms in 50 percent of the participants tested is promising, because current diagnostic technology has been able to determine a genetic basis in only about 20 percent of tested people with ASD. The large number of families identified with genetic alterations of concern is in part due to the comprehensive and uniform ability to examine regions of the genome possible with whole-genome sequencing.
Researchers identified genetic variations associated with risk for ASD including de novo, X-linked and other inherited DNA lesions in four genes not previously recognized for ASD; nine genes previously determined to be associated with ASD risk; and eight candidate ASD-risk genes. Some families had a combination of genes involved. In addition, risk alterations were found in genes associated with fragile X or related syndromes, social-cognitive deficits, epilepsy, and ASD-associated CHARGE syndrome—a genetic syndrome that is the leading cause of congenital deaf-blindness.
In this pilot effort, 99 people were tested, including the 32 people with ASD (25 male and seven female) and their parents, as well as three members of one control family not on the autism spectrum. This initiative will ultimately perform whole genome sequencing on more than 2,000 participating families who have two or more children with ASD. Data from the 10,000 genetic resource exchange participants will enable new research in the genomics of ASD.
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November 2013
Volume 18, Issue 11