title: Identification of a novel U2HR mutation c.14C>T in a Chinese patient with Marie Unna hereditary hypotrichosis.
abstract: Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant form of non-syndromic hereditary alopecia. Recently, loss-of-function mutations of an inhibitory upstream open reading frame (ORF) in the human hairless gene (HR), named U2HR, have been identified in some patients with MUHH. We investigated a sporadic Chinese patient with MUHH and identified a novel mutation in U2HR, c.14C>T (p.T5M), which extends the mutation spectrum of U2HR mutations.
authors.affiliation: Department of Dermatology, Peking University People's hospital, Beijing 100044, China.
authors.forename: Cheng
authors.initials: C
authors.lastname: Zhou
authors.forename: Dongjie
authors.initials: D
authors.lastname: Zang
authors.forename: Xiaolei
authors.initials: X
authors.lastname: Ma
authors.forename: Haiyan
authors.initials: H
authors.lastname: Huang
authors.forename: Yan
authors.initials: Y
authors.lastname: Jin
authors.forename: Jianzhong
authors.initials: J
authors.lastname: Zhang
mesh_terms: D002675:Child, Preschool; D002681:China; D005260:Female; D006801:Humans; D007039:Hypotrichosis / Q000151:congenital* / Q000235:genetics; D020125:Mutation, Missense; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C490267:HR protein, human; D014157:Transcription Factors