A research team has identified a new set of genes that may contribute to neurodevelopmental disorders, such as autism and learning disabilities.
The researchers compared the human exome – portions of the genome that encode proteins -- in people with and without developmental disorders to understand the role of genetic irregularities called copy number variants, or CNVs, in creating such disorders.
CNVs are segments of DNA that are deleted or copied in different numbers from person to person. Although some CNVs have already been linked to disorders, many others have not been studied enough to know whether they contribute to psychiatric conditions.
Sharing their results July 1 in Scientific Reports, a research team led by Dr. Stephen Scherer of the Hospital for Sick Children in Toronto, Canada, and including 2014 NARSAD Young Investigator grantee Ryan K.C. Yuen, Ph.D., and 2007 Young Investigator grantee Christian R. Marshall, Ph.D., shed light on some of these mystery CNVs.
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They identified three genes impacted by rare CNVs —GIT1, MVB12B, and PPP1R9A—as potentially disrupting brain development. Looking at sections of DNA previously linked to disorders, they also found more CNVs among people with developmental issues compared to those without, further pointing to a role for CNVs in neurodevelopmental pathology.
Among genes whose activity is affected by CNV mutations, the team found genes that normally encode proteins crucial for building proteins in medial prefrontal cortex—a brain region important for complex processes like memory and decision-making.
For this study, the researchers have developed a novel strategy for flagging CNVs that look likely to impact neurological conditions. This approach, they say, will help define genes that can be targeted to treat different disorders.
TAKEAWAY: A new strategy for uncovering the genetic basis of neurodevelopmental disorders has begun to shed light on the impact of mysterious gene copy-number mutations.