title: A Novel Homozygous Missense Mutation in HOXC13 Leads to Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia.
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.
authors.affiliation: Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas.
authors.forename: Xiaoxiao
authors.initials: X
authors.lastname: Li
authors.affiliation: Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas.
authors.forename: Meredith Lee
authors.initials: ML
authors.lastname: Orseth
authors.affiliation: Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas.
authors.forename: J Michael
authors.initials: JM
authors.lastname: Smith
authors.affiliation: Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas.
authors.forename: Mary Abigail
authors.initials: MA
authors.lastname: Brehm
authors.affiliation: Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas.
authors.forename: Nnenna Gebechi
authors.initials: NG
authors.lastname: Agim
authors.affiliation: Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas.
authors.forename: Donald Alexander
authors.initials: DA
authors.lastname: Glass
mesh_terms: D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000473:pathology; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree
chemical_list: C410305:HOXC13 protein, human; D018398:Homeodomain Proteins