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IR@PKUHSC  > 北京大学第二临床医学院  > 皮科  > 期刊论文
学科主题: 临床医学
题名:
Mutation in Ribosomal Protein L21 Underlies Hereditary Hypotrichosis Simplex
作者: 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
发表日期: 2011-07-01
DOI: 10.1002/humu.21503
卷: 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
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
项目资助者: Peking University
WOS记录号: WOS:000292551800002
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/63559
Appears in Collections:北京大学第二临床医学院_皮科_期刊论文

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作者单位: Peking Univ, Peoples Hosp, Dept Dermatol, Beijing 100044, Peoples R China

Recommended Citation:
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.
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