After years of struggling to identify genetic factors that contribute to autism spectrum disorder, scientists have identified several gene mutations that likely increase a persons risk of developing the condition.
Using clinical sequencing, researchers estimate that there probably are 1,000 genes or more linked to the development of ASD. They also confirmed certain mutations often are linked to a childs father.
The findings were published online April 4 in three separate studies in the journal Nature. Each study included lead investigators from the Autism Sequencing Consortium, an international group of autism genetics researchers working to identify additional genetic causes of autism through sequencing.
1 in 8 U.S. 8-year-olds is diagnosed with autism today, compared with 1 in 110 in 2006.
We now have a good sense of the large number of genes involved in autism and have discovered about 10% of them, said Joseph D. Buxbaum, PhD, a study author and director of the Seaver Autism Center for Research and Treatment at Mount Sinai School of Medicine in New York. The center leads research studies on ASD and cares for people with the condition.
As more of these genes are identified, it will lead to earlier diagnosis [of ASD] and novel drug development. This work is crucial for advancing autism treatment, said Buxbaum, professor of psychiatry, genetics and genomic sciences, and neuroscience at Mount Sinai. He also is a founder of the Autism Sequencing Consortium.
Though the findings are a significant step toward better understanding and treatment of ASD, they do not yet have much implication for primary care, said Jeremy Veenstra-VanderWeele, MD, assistant professor of psychiatry, pediatrics and pharmacology at Vanderbilt University School of Medicine in Nashville, Tenn.
Within a few years, physicians might be able to order genetic tests that comprehensively identify gene mutations linked to ASD, he said. In the meantime, doctors can tell parents whose child has ASD that scientists have identified some likely genetic causes of the neurodevelopmental condition and continue to search for more.
This will help families emotionally to have an explanation of why their child has autism, said Benjamin Neale, PhD, an author of one of the studies in Nature and assistant in genetics at Massachusetts General Hospital and Harvard Medical School in Boston.
Childhood autism diagnoses are rising in the United States, according to a study of 8-year-olds showing that about one in 88 has some form of ASD. In 2006, the rate was one in 110, said a study in the March 30 issue of the Centers for Disease Control and Preventions Morbidity and Mortality Weekly Report.
Read more:
Genetic mutations, environmental factors linked to autism
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