Missense Mutations identify neurodevelopmental disorder genes

A recent publication from Dr. Evan Eichler, Dr. Raphe Bernier and others discuss how missense mutations may identify neurodevelopmental disorders such as Autism.   A missense mutation is when a single DNA letter is swapped with another, altering one amino acid in a protein.  Although many missense mutations are harmless, Eichler, Bernier and others have identified some potentially harmful missense mutations associated with neurodevelopmental disorders. The research was pusblished in 2017 in Nature Neuroscience.  Spectrum News also discusses the study results with interviews from Dr. Eichler and others involved.

Scan of ‘missense’ mutations marks new suspects for autism risk