Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis.
Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant genodermatosis characterized by coarse, wiry, twisted hair developing during early childhood, with subsequent progressive hair loss. Recently, mutations in U2HR, an inhibitory upstream open reading frame in the 5' untranslated region of the human hairless gene (HR), were identified as the underlying cause of MUHH. We investigated two unrelated Chinese multigenerational families with MUHH. By sequencing U2HR in the two families, we identified two previously reported mutations, c.1A >T (p.Met1?) and c.104A>G (p*35Wext1263*). Both these mutations cosegregated with the disease phenotype in the two families.
Department of Ophthalmology of Shanghai Tenth People's Hospital and Tongji Eye Institute, Tongji University School of Medicine, Shanghai, China.|Department of Regenerative Medicine and Stem Cell Research Center, Tongji University School of Medicine, Shanghai, China.|Department of Medical Genetics, Tongji University School of Medicine, Shanghai, China.
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Zhong
Department of Ophthalmology of Pingxiang People's Hospital, Pingxiang, Jiangxi, China.
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Zhong
Department of Ophthalmology of Shanghai Tenth People's Hospital and Tongji Eye Institute, Tongji University School of Medicine, Shanghai, China.|Department of Regenerative Medicine and Stem Cell Research Center, Tongji University School of Medicine, Shanghai, China.|Department of Medical Genetics, Tongji University School of Medicine, Shanghai, China.
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Lu
Department of Ophthalmology of Shanghai Tenth People's Hospital and Tongji Eye Institute, Tongji University School of Medicine, Shanghai, China.|Department of Regenerative Medicine and Stem Cell Research Center, Tongji University School of Medicine, Shanghai, China.
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Lu
Department of Ophthalmology of Shanghai Tenth People's Hospital and Tongji Eye Institute, Tongji University School of Medicine, Shanghai, China.|Department of Regenerative Medicine and Stem Cell Research Center, Tongji University School of Medicine, Shanghai, China.
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Wang
Department of Ophthalmology of Shanghai Tenth People's Hospital and Tongji Eye Institute, Tongji University School of Medicine, Shanghai, China.
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Xu
Department of Ophthalmology of Shanghai Tenth People's Hospital and Tongji Eye Institute, Tongji University School of Medicine, Shanghai, China.
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Wang
Department of Ophthalmology of Shanghai Tenth People's Hospital and Tongji Eye Institute, Tongji University School of Medicine, Shanghai, China.|Department of Regenerative Medicine and Stem Cell Research Center, Tongji University School of Medicine, Shanghai, China.
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Xu
Department of Ophthalmology of Shanghai Tenth People's Hospital and Tongji Eye Institute, Tongji University School of Medicine, Shanghai, China.|Department of Regenerative Medicine and Stem Cell Research Center, Tongji University School of Medicine, Shanghai, China.|Department of Medical Genetics, Tongji University School of Medicine, Shanghai, China.
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Chen
D000328:Adult; D044466:Asian People / Q000235:genetics*; D002681:China; D005260:Female; D006801:Humans; D007039:Hypotrichosis / Q000151:congenital* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics*
D014157:Transcription Factors