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A Novel Homozygous Missense Mutation in HOXC 13 Leads to Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia
Author(s) -
Li Xiaoxiao,
Orseth Meredith Lee,
Smith J. Michael,
Brehm Mary Abigail,
Agim Nnenna Gebechi,
Glass Donald Alexander
Publication year - 2017
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13074
Subject(s) - missense mutation , ectodermal dysplasia , medicine , nail (fastener) , mutation , dermatology , genetics , biology , gene , materials science , metallurgy
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 HOXC 13 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 HOXC 13 gene, cosegregates within the family, and is predicted to be maximally damaging. This is the first reported case of a missense HOXC 13 mutation resulting in PHNED and the first reported case of PHNED identified in a North American family. Our findings illustrate the critical role of HOXC 13 in human hair and nail development.