A Novel Homozygous Missense Mutation in HOXC13 Leads to Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia

We describe a homozygous novel missense mutation in the HOXC13 gene that resulted in autosomal recessive PHNED in a Hispanic child. The mutation c.812A>G (p.Gln271Arg) is located within the DNA‐binding domain of the HOXC13 gene, cosegregates within the family, and is predicted to be maximally damaging. This is the first reported case of a missense HOXC13 mutation resulting in PHNED and the first reported case of PHNED identified in a North American family. Our findings illustrate the critical role of HOXC13 in human hair and nail development.

Source: Pediatric Dermatology - March 9, 2017 Category: Dermatology Authors: Xiaoxiao Li, Meredith Lee Orseth, J. Michael Smith, Mary Abigail Brehm, Nnenna Gebechi Agim, Donald Alexander Glass Tags: Case Report Source Type: research