Mutation Analysis of Type II Hair Keratin Gene in a Pedigree with Monilethrix

The study investigated a family with monilethrix, focusing on mutations in the type II hair keratin gene. Using scanning electron microscopy, researchers observed a beaded appearance and structural abnormalities in affected hair. Genetic analysis revealed a novel G1289A point mutation in exon 7 of the hHb6 gene, resulting in an R430Q substitution, present in affected family members but absent in unaffected members and 50 healthy controls. This mutation was suggested to be associated with the pathogenesis of monilethrix in the studied pedigree.