Muhammad Farooq, Mazen Kurban, Atsushi Fujimoto, Hiroki Fujikawa, Ossama Abbas, Georges Nemer, Jessica Saliba, Rima Sleiman, Mona Tofaili, Abdul-Ghani Kibbi, Masaaki Ito and Yutaka Shimomura A Homozygous Frameshift Mutation in the HOXC13 Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family Human Mutation 34
Article first published online: 5 MAR 2013 | DOI: 10.1002/humu.22271
In this study, we analyzed a consanguineous Syrian family with an affected girl with pure hair and nail ectodermal dysplasia, which is a rare genetic disorder characterized by alopecia and nail dystrophy since birth. Linkage studies and direct sequencing analysis led to the identification of a homozygous frameshift mutation (c.355delC; p.Leu119Trpfs*20) in the HOXC13 gene of the patient. In vitro studies in cultured cells demonstrated loss of function of the mutant HOXC13 protein.
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