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A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia
Wong, Sing-Wai1; Liu, Hao-Chen1; Han, Dong1; Chang, Huai-Guang1; Zhao, Hong-Shan2,3; Wang, Yi-Xiang4; Feng, Hai-Lan1
刊名MUTAGENESIS
2014-09-01
DOI10.1093/mutage/geu019
29期:5页:319-323
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity ; Toxicology
研究领域[WOS]Genetics & Heredity ; Toxicology
关键词[WOS]SELECTIVE TOOTH AGENESIS ; MISSENSE MUTATION ; HYPODONTIA ; PAX9 ; AXIN2 ; GENE ; IDENTIFICATION ; POLYMORPHISMS ; METAANALYSIS ; FAMILY
英文摘要

Oligodontia, which is the congenital absence of six or more permanent teeth, excluding the third molars, may contribute to masticatory dysfunction, speech alteration, aesthetic problems and malocclusion. Msh homeobox 1 (MSX1) was the first gene identified as causing non-syndromic oligodontia. In this study, we identified a novel heterozygous non-stop mutation (c.910_911dupTA, p.*304Tyrext*48) in MSX1 in a Chinese family with autosomal dominant non-syndromic oligodontia. This novel mutation substitutes the stop codon with a tyrosine residue, potentially adding 48 amino acids to the C-terminus of MSX1. Further in vitro study found that mutant MSX1 could be expressed but had lost its ability to enter the nucleus. This is the first report indicating that a non-stop mutation in MSX1 is responsible for oligodontia. This study broadens the mutation spectrum for MSX1 and provides a new way to clarify the mechanism of MSX1 in tooth agenesis.

语种英语
WOS记录号WOS:000344624100003
引用统计
被引频次:13[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/400002259/60212
专题北京大学口腔医学院_口腔修复科
北京大学基础医学院
北京大学口腔医学院_中心实验室
作者单位1.Peking Univ, Sch & Hosp Stomatol, Dept Prosthodont, Beijing 100081, Peoples R China
2.Peking Univ, Hlth Sci Ctr, Dept Med Genet, Beijing 100191, Peoples R China
3.Peking Univ, Hlth Sci Ctr, Ctr Human Dis Genom, Beijing 100191, Peoples R China
4.Peking Univ, Cent Lab, Sch & Hosp Stomatol, Beijing 100081, Peoples R China
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GB/T 7714
Wong, Sing-Wai,Liu, Hao-Chen,Han, Dong,et al. A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia[J]. MUTAGENESIS,2014,29(5):319-323.
APA Wong, Sing-Wai.,Liu, Hao-Chen.,Han, Dong.,Chang, Huai-Guang.,Zhao, Hong-Shan.,...&Feng, Hai-Lan.(2014).A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia.MUTAGENESIS,29(5),319-323.
MLA Wong, Sing-Wai,et al."A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia".MUTAGENESIS 29.5(2014):319-323.
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