Abstract
Pure hair and nail ectodermal dysplasia (PHNED) is a rare disorder that presents with hypotrichosis and nail dystrophy while sparing other ectodermal structures such as teeth and sweat glands. 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.
Original language | English (US) |
---|---|
Pages (from-to) | 172-175 |
Number of pages | 4 |
Journal | Pediatric dermatology |
Volume | 34 |
Issue number | 2 |
DOIs | |
State | Published - Mar 1 2017 |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Dermatology