Study Links Intellectual Disability to Newly Found Mutation
Building on a research paper published in 2011, researchers led by Cold Spring Harbor Laboratory (CSHL) Assistant Professor Gholson Lyon have identified a new genetic mutation, known as NAA15, associated with intellectual disability, developmental delay, autism spectrum disorder, abnormal facial features, and congenital cardiac anomalies.
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. In the years that followed, Lyon collected information on individuals with mutations in a related gene called NAA15.
It bears the blueprint for a protein that works alongside the NAA10 protein in a cellular mechanism that modifies other proteins. This mechanism is called NatA-mediated N-terminal acetylation.
Lyon at the time, came across a Columbia University paper describing a boy with a mutation in NAA15 who had congenital heart defects as well as developmental delays and intellectual disability. Lyon and colleagues then undertook collecting referrals from clinicians around the world that have identified a total of 37 individuals in 32 families with
a mutation in NAA15.“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.” This points to the future promise of this research, he suggests. “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 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.
