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

In a study from 2012, researchers investigated a Han family with monilethrix, a congenital hair disorder, to identify potential mutations in keratin genes associated with the condition. They collected peripheral blood samples and performed PCR amplification and sequencing on exons 1 and 7 of the KRT81, KRT83, and KRT86 genes. The study identified a novel heterozygous G→A mutation at position 1,289 in exon 7 of the KRT86 gene, referred to as R430Q (KRT86), which was not a polymorphism according to restriction fragment length polymorphism (RFLP) analysis. This mutation in the KRT86 gene was suggested to be pathogenic for monilethrix. No new or recurrent mutations were found in the other examined exons of KRT81, KRT83, and KRT86. The findings expanded the spectrum of known mutations in the hHb6 gene, which encodes for type II human basic hair keratin.