Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix

This study investigated a Chinese Han family with monilethrix, an autosomal dominant hair disorder, to identify mutations in the KRT86 gene. Using light and scanning electron microscopy, researchers observed characteristic hair abnormalities. DNA analysis revealed a heterozygous transversion mutation c.1204G>A (p.E402K) in the seventh exon of KRT86 in affected individuals. This mutation was identified as a significant factor in the pathogenesis of monilethrix in this family and suggested as a mutation hotspot. The study concluded that further research was necessary to understand the relationship between the KRT86 mutation and the monilethrix phenotype.