Analysis of Human Hair Basic Keratin 6 Gene Mutation in a Chinese Han Family With Monilethrix

The study identified a mutation in the human hair basic keratin 6 gene (hHB6), specifically a heterozygous transition of c.1204G to A (p.E402K), in a Chinese Han family with monilethrix. This mutation was found in both the mother and her daughter, but not in unaffected family members or 150 unrelated normal controls. The findings highlighted the significant role of the hHB6 gene in the development of monilethrix and suggested that this common mutation could be a cause of the condition in the Chinese population.