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Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I
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
2013-07-01
DOI10.1016/j.gene.2013.03.035
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
WOS记录号WOS:000320150100013
项目编号5102041
资助机构Leading Academic Discipline Project of Beijing Education Bureau ; Natural Science Foundation of Beijing City
引用统计
被引频次:1[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/400002259/56114
专题北京大学第三临床医学院_皮肤科
北京大学基础医学院
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
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GB/T 7714
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.
APA Nan, Xu.,Dai, Shan.,Li, Chun-ting.,Chen, Xue-rong.,Zhao, Hong-shan.,...&Song, Qing-hua.(2013).Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I.GENE,523(1),88-91.
MLA Nan, Xu,et al."Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I".GENE 523.1(2013):88-91.
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