January 22, 2016
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RANBP1 gene may increase risk for severe ASD subtypes

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Recent findings suggest the RANBP1 gene may have a significant role in increasing risk for severe subtypes of autism concurrent with other genetic diseases.

“The gene we investigated may function as an important factor, not only in forms of autism, but also in other neuropsychiatric conditions,” study researcher Hakon Hakonarson, MD, PhD, of the Children's Hospital of Philadelphia, said in a press release. “We have uncovered underlying molecular defects across disease categories, suggesting that these biological networks are good targets for future research.”

Hakon Hakonarson, PhD

Hakon Hakonarson

Hakonarson and colleagues compared DNA from 539 children with autism spectrum disorder (ASD) and 75 children with 22q11.2 deletion syndrome, of whom 25 also had ASD.

Findings indicated children with ASD with copy number variations in the metabotropic glutamate receptor network were more likely to have syndromic ASD, compared with individuals without copy number variations in the same network (74% vs. 16%).

Separate analysis of study participants with 22q11.2 deletion syndrome showed that 20% of children with the disorder plus ASD also had a deletion of a metabotropic glutamate receptor network gene outside of the 22q11.2 region.

Conversely, this occurred among only 2% of children with 22q11.2 deletion syndrome without ASD.

“Based on this study, we propose that the RANBP1 gene is a significant genetic factor in both ASD and 22q.11.2 deletion syndrome,” Hakonarson said in the release. “Furthermore, when the [metabotropic glutamate receptor] network is disrupted at multiple points, it predisposes individuals to a more severe disease.”

Disclosure: Wegner reports no relevant financial disclosures. Please see the full study for a list of all authors’ relevant financial disclosures.