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学科主题口腔医学
A novel mutation in the SH3BP2 gene causes cherubism: case report
Li, Cui-Ying; Yu, Shi-Feng
刊名BMC MEDICAL GENETICS
2006-12-05
DOI10.1186/1471-2350-7-84
7
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]MAPS
英文摘要

Background: Cherubism is a rare hereditary multi-cystic disease of the jaws, characterized by its typical appearance in early childhood, and stabilization and remission after puberty. It is genetically transmitted in an autosomal dominant fashion and the gene coding for SH3-binding protein 2 ( SH3BP2) may be involved.

Case presentation: We investigated a family consisting of 21 members with 3 female affected individuals with cherubism from Northern China. Of these 21 family members, 17 were recruited for the genetic analysis. We conducted the direct sequence analysis of the SH3BP2 gene among these 17 family members. A disease-causing mutation was identified in exon 9 of the gene. It was an A1517G base change, which leads to a D419G amino acid substitution.

Conclusion: To our knowledge, the A1517G mutation has not been reported previously in cherubism. This finding is novel.

语种英语
WOS记录号WOS:000243514500001
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被引频次:17[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/400002259/55965
专题北京大学口腔医学院_口腔病理科
作者单位Peking Univ, Dept Oral Pathol, Sch Stomatol, Beijing, Peoples R China
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GB/T 7714
Li, Cui-Ying,Yu, Shi-Feng. A novel mutation in the SH3BP2 gene causes cherubism: case report[J]. BMC MEDICAL GENETICS,2006,7.
APA Li, Cui-Ying,&Yu, Shi-Feng.(2006).A novel mutation in the SH3BP2 gene causes cherubism: case report.BMC MEDICAL GENETICS,7.
MLA Li, Cui-Ying,et al."A novel mutation in the SH3BP2 gene causes cherubism: case report".BMC MEDICAL GENETICS 7(2006).
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