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学科主题: 临床医学
题名:
Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I
作者: Nan, Xu2,3; Dai, Shan1; Li, Chun-ting1; Chen, Xue-rong1; Zhao, Hong-shan2,3; Zhang, Feng-shan4; Song, Qing-hua1
关键词: Trichorhinophalangeal syndrome ; TRPS1 gene ; Deletion mutation
刊名: GENE
发表日期: 2013-07-01
DOI: 10.1016/j.gene.2013.03.035
卷: 523, 期:1, 页:88-91
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]: TRANSCRIPTION ; ZINC
英文摘要:

Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant disorder. Deletion or mutation of the TRPS1 gene leads to the tricho-rhino-phalangeal syndromes type I or type III. In this article, we describe a Chinese patient affected with type I TRPS and showing prominent pilar, rhinal and phalangeal abnormalities. Mutational screening and sequence analysis of TRPS1 gene revealed a previously unidentified four-base-pair deletion of nucleotides 1783-1786 (c.1783_1786delACTT). The mutation causes a frame shift after codon 593, introducing a premature stop codon after 637 residues in the gene sequence. This deletion is an unquestionable loss-of-function mutation, deleting all the functionally important parts of the protein. Our novel discovery indicates that sparse hair and metacarpal defects of tricho-rhino-phalangeal syndromes in this patient are due to this TRPS1 mutation. And this data further supports the critical role of TRPS1 gene in hair and partial skeleton morphogenesis. (C) 2013 Elsevier B.V. All rights reserved.

语种: 英语
所属项目编号: 5102041
项目资助者: Leading Academic Discipline Project of Beijing Education Bureau ; Natural Science Foundation of Beijing City
WOS记录号: WOS:000320150100013
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/56114
Appears in Collections:北京大学第三临床医学院_皮肤科_期刊论文

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作者单位: 1.Peking Univ, Hosp 3, Dept Dermatol, Beijing 100871, Peoples R China
2.Peking Univ, Sch Basic Med Sci, Dept Med Genet, Beijing 100191, Peoples R China
3.Peking Univ, Human Dis Genom Ctr, Beijing 100191, Peoples R China
4.Peking Univ, Hosp 3, Dept Orthoped, Beijing 100191, Peoples R China

Recommended Citation:
Nan, Xu,Dai, Shan,Li, Chun-ting,et al. Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I[J]. GENE,2013,523(1):88-91.
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