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Two Novel Heterozygous Mutations of epsilon VC2 Cause a Mild Phenotype of Ellis-van Creveld Syndrome in a Chinese Family
Shen, Wenjing1,2; Han, Dong1,2; Zhang, Jin1,2; Zhao, Hongshan3,4; Feng, Hailan1,2
关键词Ellis-van Creveld Syndrome Weyers Acrofacial Dysostosis Evc Evc2 Mutation
刊名AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2011-09-01
DOI10.1002/ajmg.a.34125
155A期:9页:2131-2136
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]WEYERS ACRODENTAL DYSOSTOSIS ; CHROMOSOME 4P16 ; GENE ; EVC2 ; SIBLINGS ; SEQUENCE ; DELETION ; REGION ; LOCUS ; CILIA
英文摘要

Ellis-van Creveld syndrome (EvC, chondroectodermal dysplasia; OMIM 225500) is an autosomal recessive skeletal dysplasia with associated multisystem involvement. The syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails, and abnormal teeth. Congenital heart defects occur in 50-60% of cases. In this study, we report EvC in a 6-year-old Chinese girl with hypodontia and polydactyly, mild short stature, and abnormalities of the knee joints. No signs of short ribs, narrow thorax, or congenital heart defects were found in this patient. The EvC phenotype shares some similarity with Weyers acrofacial dysostosis (Weyer; OMIM 193530), an autosomal dominant disorder clinically characterized by mild short stature, postaxial polydactyly, nail dystrophy, and dysplastic teeth. Mutations in EVC or EVC2 are associated with both EvC syndrome and Weyers acrodental dysostosis, but the two conditions differ in the severity of the phenotype and their pattern of inheritance. In this study, two novel heterozygous EVC2 mutations, IVS5-2A > Gand c.2653C > T (Arg885X), were identified in the patient. The IVS5-2A > G mutation was inherited from the patient′s mother and the c. 2653C > T from her father. Her parents have no phenotypic symptoms similar to those of the patient. These findings extend the mutation spectrum of this malformation syndrome and provide the possibility of prenatal diagnosis for future offspring in this family. (C) 2011 Wiley-Liss, Inc.

语种英语
WOS记录号WOS:000294182500016
项目编号7092113 ; 2007-1005
资助机构Beijing Natural Science Foundation ; Capital Medical Developing foundation
引用统计
被引频次:11[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/400002259/55897
专题北京大学口腔医学院_材料检测中心
北京大学基础医学院
北京大学口腔医学院_口腔修复科
作者单位1.Peking Univ, Dept Prosthodont, Sch Stomatol, Beijing 100081, Peoples R China
2.Peking Univ, Dept Prosthodont, Hosp Stomatol, Beijing 100081, Peoples R China
3.Peking Univ, Dept Med Genet, Hlth Sci Ctr, Beijing 100081, Peoples R China
4.Peking Univ, Hlth Sci Ctr, Ctr Human Dis Genom, Beijing 100081, Peoples R China
推荐引用方式
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Shen, Wenjing,Han, Dong,Zhang, Jin,et al. Two Novel Heterozygous Mutations of epsilon VC2 Cause a Mild Phenotype of Ellis-van Creveld Syndrome in a Chinese Family[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A,2011,155A(9):2131-2136.
APA Shen, Wenjing,Han, Dong,Zhang, Jin,Zhao, Hongshan,&Feng, Hailan.(2011).Two Novel Heterozygous Mutations of epsilon VC2 Cause a Mild Phenotype of Ellis-van Creveld Syndrome in a Chinese Family.AMERICAN JOURNAL OF MEDICAL GENETICS PART A,155A(9),2131-2136.
MLA Shen, Wenjing,et al."Two Novel Heterozygous Mutations of epsilon VC2 Cause a Mild Phenotype of Ellis-van Creveld Syndrome in a Chinese Family".AMERICAN JOURNAL OF MEDICAL GENETICS PART A 155A.9(2011):2131-2136.
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