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学科主题口腔医学
Novel ENAM and LAMB3 Mutations in Chinese Families with Hypoplastic Amelogenesis Imperfecta
Wang, Xin; Zhao, Yuming; Yang, Yuan; Qin, Man
刊名PLOS ONE
2015-03-13
DOI10.1371/journal.pone.0116514
10期:3
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Multidisciplinary Sciences
研究领域[WOS]Science & Technology - Other Topics
关键词[WOS]JUNCTIONAL EPIDERMOLYSIS-BULLOSA ; INTEGRIN BINDING ; LAMININ FAMILY ; HERLITZ ; CHAINS ; PHENOTYPE
英文摘要

Amelogenesis imperfecta is a group of inherited diseases affecting the quality and quantity of dental enamel. To date, mutations in more than ten genes have been associated with non-syndromic amelogenesis imperfecta (AI). Among these, ENAM and LAMB3 mutations are known to be parts of the etiology of hypoplastic AI in human cases. When both alleles of LAMB3 are defective, it could cause junctional epidermolysis bullosa (JEB), while with only one mutant allele in the C-terminus of LAMB3, it could result in severe hypoplastic AI without skin fragility. We enrolled three Chinese families with hypoplastic autosomal-dominant AI. Despite the diagnosis falling into the same type, the characteristics of their enamel hypoplasia were different. Screening of ENAM and LAMB3 genes was performed by direct sequencing of genomic DNA from blood samples. Disease-causing mutations were identified and perfectly segregated with the enamel defects in three families: a 19-bp insertion mutation in the exon 7 of ENAM (c.406_407insTCAAAAAAGCCGACCACAA, p.K136Ifs*16) in Family 1, a singlebase deletion mutation in the exon 5 of ENAM (c.139delA, p.M47Cfs*11) in Family 2, and a LAMB3 nonsense mutation in the last exon (c.3466C>T, p.Q1156X) in Family 3. Our results suggest that heterozygous mutations in ENAM and LAMB3 genes can cause hypoplastic AI with markedly different phenotypes in Chinese patients. And these findings extend the mutation spectrum of both genes and can be used for mutation screening of AI in the Chinese population.

语种英语
WOS记录号WOS:000351277500011
项目编号2014-2016
资助机构Construction Project of the National Key Discipline of Pediatric Dentistry
引用统计
被引频次:5[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/400002259/63678
专题北京大学口腔医学院_儿童口腔科
作者单位Peking Univ, Sch & Hosp Stomatol, Dept Pediat Dent, Beijing 100871, Peoples R China
推荐引用方式
GB/T 7714
Wang, Xin,Zhao, Yuming,Yang, Yuan,et al. Novel ENAM and LAMB3 Mutations in Chinese Families with Hypoplastic Amelogenesis Imperfecta[J]. PLOS ONE,2015,10(3).
APA Wang, Xin,Zhao, Yuming,Yang, Yuan,&Qin, Man.(2015).Novel ENAM and LAMB3 Mutations in Chinese Families with Hypoplastic Amelogenesis Imperfecta.PLOS ONE,10(3).
MLA Wang, Xin,et al."Novel ENAM and LAMB3 Mutations in Chinese Families with Hypoplastic Amelogenesis Imperfecta".PLOS ONE 10.3(2015).
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