Mutation Detection of Type II Hair Cortex Keratin Gene KRT86 in a Chinese Han Family With Congenital Monilethrix

This study focused on a Chinese Han family affected by monilethrix, an autosomal dominant hair disorder characterized by alopecia and follicular papules. Researchers used light and scanning electron microscopy to examine hair samples and performed genetic analysis on DNA from blood samples. They identified a heterozygous transversion mutation, c.1204G>A (p.E402K), in the seventh exon of the KRT86 gene in affected family members. This mutation was found to play a significant role in the pathogenesis of monilethrix in this family and was identified as a mutation hotspot in KRT86. The study suggested that further research was needed to explore the relationship between the phenotype and the mutation of the type II hair keratin gene KRT86 in monilethrix.