A Mutation in the Type II Hair Keratin KRT86 Gene in a Han Family with Monilethrix

The study investigated a Han family with monilethrix, a congenital hair disorder, focusing on mutations in type II hair keratin genes KRT81, KRT83, and KRT86. Researchers identified a novel heterozygous transition mutation, G to A at position 1,289 in exon 7 of the KRT86 gene, resulting in the R430Q mutation. This mutation was suggested to be pathogenic for monilethrix. No novel or recurrent mutations were found in exons of KRT81, KRT83, or other parts of KRT86. The findings expanded the spectrum of mutations in the hHb6 gene associated with this condition.