Novel KRT83 and KRT86 Mutations Associated with Monilethrix

This study identified novel mutations in the KRT81, KRT83, and KRT86 genes associated with monilethrix, a rare autosomal dominant hair disorder. The research involved a large Venezuelan family and additional patients from the Netherlands, Belgium, and France. The KRT86 p.Leu409Pro mutation was found to segregate with the monilethrix phenotype in the Venezuelan family, while the KRT83 p.Glu418Lys mutation was identified in Dutch and Belgian patients. The study concluded that KRT83 is not a minor hair keratin, as previously speculated, and highlighted the phenotypic variability of monilethrix. The findings expanded the mutation spectrum for monilethrix and suggested that mutations in these keratins, particularly in the helix termination motifs, are pathogenic. The study also noted the possibility of de novo mutations and the potential influence of polymorphisms in other keratins on the expression of the disorder.