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: Cheng Zhou, Dongjie Zang, Xiaolei Ma, Haiyan Huang, Yan Jin, Jianzhong Zhang
• Journal: European journal of dermatology : EJD (Eur J Dermatol) Vol. 22 Issue 1 Pg. 34-5 ( 2012) ISSN: 1167-1122 [Print] France
• PMID: 22155146 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• HR protein, human
• Transcription Factors

Topics

• Child, Preschool
• China
• Female
• Humans
• Hypotrichosis (congenital, genetics)
• Mutation, Missense
• Transcription Factors (genetics)