Intellectual disabilities linked to new ID’d gene mutation, study finds

April 13 (UPI) — A newly identified genetic mutation is associated with intellectual disabilities, including autism, according to a study.

Researchers led by Cold Spring Harbor Laboratory’s Assistant Professor Gholson Lyon have discovered this gene mutation, known as NAA15, that can be hereditary and is linked to intellectual disability, developmental delay, autism spectrum disorder, abnormal facial features and congenital cardiac anomalies. The findings were published online Thursday in The American Journal of Human Genetics.

The private, nonprofit lab, located on Long Island, N.Y., focuses on cancer, neuroscience, plant genetics, genomic and quantitative biology.

“As the price of genetic sequencing drops and more people are sequenced, we may be able to provide individuals with such mutations with more education and services in early life, which could lead to better overall functioning,” Lyon said in a news release.

NAA15 is a relative of the mutation associated with Ogden syndrome. Ogden is an X-chromosome-linked condition only found in males.

In 2011, Lyon first wrote about the syndrome, which is named for the Utah town in which five boys from a family’s two generations had the disease before age 3. That research prompted him to examine NAA15 and 37 individuals in 32 families that had the mutation.

“Trying to prove the relevance of any mutation in a gene requires a large number of samples,” Lyon says. “As a result, we’re seeing the field of human genetics move more toward this type of large-scale collaboration.”

Lyon expects the discovery of more disorders caused by rare mutations like NAA15.

“Instead of lumping many diseases together under very broad categories like ‘intellectual disability’ or ‘autism,’ the human genetics community is now splitting these into much finer entities so that we can begin to do natural history studies, much like what has been done with Fragile X syndrome,” Lyon said.

The Fragile X condition, which causes learning disabilities and cognitive impairment, has been associated with mutations in the FMRP gene.

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