[Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].

The study identified a mutation in the hHB6 gene, specifically c.1204G to A (p.E402K), in a Chinese family affected by monilethrix, with the mutation being passed from mother to daughter. This finding highlighted the significant role of the hair keratin hHB6 in the development of monilethrix and suggested that this common mutation was also responsible for the condition in the Chinese population.