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学科主题: 口腔医学
题名:
Novel identification of a four-base-pair deletion mutation in PITX2 in a Rieger syndrome family
作者: Wang, Y; Zhao, H; Zhang, X; Feng, H
关键词: oligodontia ; Rieger syndrome ; gene mutation ; family
刊名: JOURNAL OF DENTAL RESEARCH
发表日期: 2003-12-01
卷: 82, 期:12, 页:1008-1012
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Dentistry, Oral Surgery & Medicine
研究领域[WOS]: Dentistry, Oral Surgery & Medicine
关键词[WOS]: TRANSCRIPTION FACTOR GENE ; EXPRESSION ; FOXC1 ; SIGNALS ; FKHL7 ; PAX6 ; 6P25
英文摘要:

Rieger syndrome is one of the most serious causes of tooth agenesis. Mutations in the PITX2, FOXC1, and PAX6 genes have been associated with Rieger syndrome. We have studied a three-generation Chinese family affected with Rieger syndrome and showing prominent dental abnormalities. Mutational screening and sequence analysis of the PITX2 gene revealed a previously unidentified four-base-pair deletion of nucleotides 717-720 in exon 5 in all affected members. The mutation causes a frame shift after Thr44, the 7th amino acid of the homeo-domain, and introduces a premature stop codon in the gene sequence. This deletion is the first unquestionable loss-of-function mutation, deleting all the functionally important parts of the protein. Our novel discovery indicates that the oligodontia and other phenotypes of Rieger syndrome observed in this family are due to this PITX2 mutation, and these data further support the critical role of PIXT2 in tooth morphogenesis.

语种: 英语
WOS记录号: WOS:000186818500014
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/54531
Appears in Collections:北京大学口腔医学院_口腔修复科_期刊论文

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作者单位: 1.Peking Univ, Dept Prosthodont, Sch Stomatol, Beijing 100081, Peoples R China
2.Peking Univ, Dept Immunol, Sch Basic Med, Hlth Sci Ctr, Beijing 100083, Peoples R China
3.Peking Univ, Ctr Human Dis Genom, Beijing 100083, Peoples R China

Recommended Citation:
Wang, Y,Zhao, H,Zhang, X,et al. Novel identification of a four-base-pair deletion mutation in PITX2 in a Rieger syndrome family[J]. JOURNAL OF DENTAL RESEARCH,2003,82(12):1008-1012.
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