Recurrent Missense Mutations in the Hair Keratin Gene HHb6 in Monilethrix

Monilethrix, an autosomal dominant hair disorder causing hair fragility and patchy dystrophic alopecia, was linked to mutations in hair-specific keratins hHb1 and hHb6. This study investigated two unrelated families from Russia and Colombia, identifying two missense mutations in hHb6: E402K in the Russian family and E413K in the Colombian family. These mutations, which have also been found in European families, supported the role of recurrent hHb6 and hHb1 mutations in monilethrix globally.