鉴定一位中国 Marie Unna 遗传性稀毛症患者的新型 U2HR 突变 c.14C>T。
Identification of a novel U2HR mutation c.14C>T in a Chinese patient with Marie Unna hereditary hypotrichosis.
机构信息
Department of Dermatology, Peking University People's hospital, Beijing 100044, China.
出版信息
Eur J Dermatol. 2012 Jan-Feb;22(1):34-5. doi: 10.1684/ejd.2011.1573.
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.
玛丽·安纳遗传性稀毛症（MUHH）是一种常染色体显性遗传的非综合征性遗传性脱发。最近，一些 MUHH 患者的人类无毛基因（HR）中的抑制性上游开放阅读框（ORF）的功能丧失突变已被鉴定，命名为 U2HR。我们研究了一名散发的中国 MUHH 患者，并在 U2HR 中发现了一个新的突变，c.14C>T（p.T5M），该突变扩展了 U2HR 突变的突变谱。
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