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 Version imprimable |
Identification of a novel
U2HR mutation c.14C>T in a Chinese patient with Marie Unna hereditary hypotrichosis |
European Journal of Dermatology. Volume 22, Numéro 1, 34-5, January-February 2012, Genes and skin
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 Free Article
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Auteur(s) : Cheng Zhou, Dongjie Zang, Xiaolei Ma, Haiyan Huang, Yan Jin, Jianzhong Zhang |
Résumé : 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. |
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