De Novo Mutations in Monilethrix

The study investigated the genetic basis of monilethrix, an autosomal dominant hair shaft disorder, by examining mutations in hair keratins hHb1, hHb3, and hHb6. Researchers analyzed 10 families with monilethrix, where the parents were not clinically affected, and sequenced the genes in 7 patients. They discovered de novo germline missense mutations in 2 patients at the helix termination motif: E402K in hHb6 and E413K in hHb1, while no mutations were found in the other 5 patients. This suggested that these specific mutations could contribute to the development of monilethrix.