Novel mutations in the gene HOXC13 underlying pure hair and nail ectodermal dysplasia in consanguineous families

Funding sources: Higher Education Commission (HEC), Islamabad, Pakistan financially supported the current study. Conflicts of interest: none to declare. Madam, Pure hair and nail ectodermal dysplasia (PHNED; MIM 602032) is a congenital disorder characterized by the presence of sparse to absent hairs on the scalp and/or the rest of the body, and the appearance of dystrophic nails. The condition is inherited both in autosomal dominant1 and recessive2 manners. The autosomal recessive form has been mapped on chromosomes 17p12–q21.23 and 12p11.1–q21.1,4 encompassing type I and type II keratin gene clusters, respectively. Pathogenic mutations in a type II keratin gene KRT85 (MIM 602767) causing the recessive form of PHNED have been reported previously.4 5 Recently, two research groups working on PHNED reported three mutations in the gene HOXC13 located in the HOXC cluster on chromosome 12p11.1–q21.1. This included a nonsense mutation (c.390C>A; p.Tyr130*), 27·6 kb deletion and a homozygous frameshift mutation (c.355delC; p.Leu119Trpfs*20) in three families originating from different ethnic backgrounds.6 7