Gholson Lyon, assistant professor at Cold Spring Harbor Laboratory in New York found a strong connection between mutations in the NAA15 gene, a protein modifier, and neurodevelopmental delays. Lyon and his team identified 38 people with a harmful NAA15 mutation, 24 of which had autism features and 23 had an intellectual disability. This finding is consistent with a previous global NAA15 sequencing study of more than 13,000 people where 13 individuals were identified with a NAA15 mutation. By comparing genotypes with clinical behavior, the researchers found evidence of motor delays and congenital heart defects. Thus, it is critical for autism treatment and intervention to continue to identify patterns in behavior related to mutations in the NAA15 gene.
A recent publication by Hanyin Chengin, et al, in the American Journal of Human Genetics, and co-authored by the Bernier Lab’s Dr. Raphe Bernier and Dr. Jen Beighley, discusses the truncating variants of the NAA15 gene and its association with ASD, ID and congenital anomalies.