Missense mutations occur when there is a change in one gene’s DNA base pair, and the change results in the substitution of one amino acid for another in the gene’s protein. Mutations that disrupt the function of proteins are widely recognized as a risk source for development disorders such as intellectual disability, congenital heart defects and autism spectrum disorder (ASD).

A new study published in Nature Genetics established a computationally integrated approach to investigate the functional impact of missense mutations. The team, which includes Carnegie Mellon University’s Kathyrn Roeder, tested the approach by analyzing genetic structures of individuals with ASD who also had mutations as well as their siblings who did not have the mutations. They found that the framework successfully identified and prioritized missense mutations that contribute to disease or disorder risk.

Source: Read Full Article