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

Xiaoxiao Li, Meredith Lee Orseth, J. Michael Smith, Mary Abigail Brehm, Nnenna Gebechi Agim, Donald Alexander Glass

Research output: Contribution to journalArticle

3 Scopus citations

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 languageEnglish (US)
Pages (from-to)172-175
Number of pages4
JournalPediatric Dermatology
Volume34
Issue number2
DOIs
StatePublished - Mar 1 2017

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Dermatology

Fingerprint Dive into the research topics of 'A Novel Homozygous Missense Mutation in HOXC13 Leads to Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia'. Together they form a unique fingerprint.

  • Cite this