De Novo Mutations in Monilethrix

The study investigated the genetic basis of monilethrix, a hair shaft disorder, by examining mutations in hair keratin genes hHb1, hHb3, and hHb6 in 7 patients from 10 families where the parents were unaffected. The research identified de novo germline missense mutations in 2 patients: E402K in hHb6 and E413K in hHb1, suggesting these mutations contributed to the disorder. No mutations were found in the other 5 patients, indicating variability in genetic causes. This study highlighted the role of specific keratin mutations in monilethrix.