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学科主题: 口腔医学
题名:
Novel ENAM and LAMB3 Mutations in Chinese Families with Hypoplastic Amelogenesis Imperfecta
作者: Wang, Xin; Zhao, Yuming; Yang, Yuan; Qin, Man
刊名: PLOS ONE
发表日期: 2015-03-13
DOI: 10.1371/journal.pone.0116514
卷: 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
所属项目编号: 2014-2016
项目资助者: Construction Project of the National Key Discipline of Pediatric Dentistry
WOS记录号: WOS:000351277500011
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/63678
Appears in Collections:北京大学口腔医学院_儿童口腔科_期刊论文

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作者单位: Peking Univ, Sch & Hosp Stomatol, Dept Pediat Dent, Beijing 100871, Peoples R China

Recommended Citation:
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).
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