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Mutation in Ribosomal Protein L21 Underlies Hereditary Hypotrichosis Simplex
Zhou, Cheng; Zang, Dongjie; Jin, Yan; Wu, Huafeng; Liu, Zhengyi; Du, Juan; Zhang, Jianzhong
关键词hereditary hypotrichosis simplex HHS ribosomal protein RPL21
刊名HUMAN MUTATION
2011-07-01
DOI10.1002/humu.21503
32期:7页:710-714
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity
资助者Peking University ; Peking University
研究领域[WOS]Genetics & Heredity
关键词[WOS]HUMAN HAIR-GROWTH ; CHINESE FAMILY ; GENE ; HYBRIDIZATION ; ALOPECIA ; MAPS
英文摘要

Hereditary hypotrichosis simplex (HHS) is a form of nonsyndromic inherited hair loss disorders without characteristic hair shaft changes, which has marked genetic and clinical heterogeneity. After mapping the locus to 13q12.12-12.3 in a Chinese family with a generalized variant of autosomal dominant HHS (ADHHS), exome sequencing was performed in an affected individual. The cause of the disease in this family was identified as a c.95G > A (p.Arg32Gln) mutation in the RPL21 gene, which encoding the ribosomal protein L21. This mutation cosegregated completely with the disease phenotype and was not observed in unaffected family members, 200 normal controls, the dbSNP database, the YH database or pilot data from the 1000 Genomes Project. Additionally, this mutation was found in two patients from another unrelated Chinese family with HHS. To the best of our knowledge, this is the first report describing the involvement of a ribosomal protein gene mutation in a nonsyndromic hair loss disorder. Hum Mutat 32:710-714, 2011. (C) 2011 Wiley-Liss, Inc.

语种英语
所属项目编号RDB2009-27
资助者Peking University ; Peking University
WOS记录号WOS:000292551800002
引用统计
被引频次:25[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/63559
专题北京大学第二临床医学院_皮科
作者单位Peking Univ, Peoples Hosp, Dept Dermatol, Beijing 100044, Peoples R China
推荐引用方式
GB/T 7714
Zhou, Cheng,Zang, Dongjie,Jin, Yan,et al. Mutation in Ribosomal Protein L21 Underlies Hereditary Hypotrichosis Simplex[J]. HUMAN MUTATION,2011,32(7):710-714.
APA Zhou, Cheng.,Zang, Dongjie.,Jin, Yan.,Wu, Huafeng.,Liu, Zhengyi.,...&Zhang, Jianzhong.(2011).Mutation in Ribosomal Protein L21 Underlies Hereditary Hypotrichosis Simplex.HUMAN MUTATION,32(7),710-714.
MLA Zhou, Cheng,et al."Mutation in Ribosomal Protein L21 Underlies Hereditary Hypotrichosis Simplex".HUMAN MUTATION 32.7(2011):710-714.
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