Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype

The study investigated mutations in hair keratin genes hHb1 and hHb6 in 18 unrelated pedigrees with monilethrix, identifying novel mutations such as E413K, N114H, and N114D. These mutations were found to affect the stability and assembly of keratin intermediate filaments, potentially altering hair structure and leading to the clinical manifestations of monilethrix. While mutations in hHb1 and hHb6 showed similar effects on hair growth, nail abnormalities were more common with hHb1 mutations. The study highlighted the variability in clinical severity and suggested that additional factors might explain this variation.