NDLI: A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis

Content Provider	Springer Nature Link
Author	Ye, Xiaoqian Song, Guangtai Fan, Mingwen Shi, Lisong Jabs, Ethylin Wang Huang, Shangzhi Guo, Ruiqiang Bian, Zhuan
Copyright Year	2006
Abstract	Weyers acrofacial dysostosis (MIM 193530) is an autosomal dominant disorder clinically characterized by mild short stature, postaxial polydactyly, nail dystrophy and dysplastic teeth. Ellis–van Creveld syndrome (EvC, MIM 225500) is an autosomal recessive disorder with a similar, but more severe phenotype. Mutations in the EVC have been identified in both syndromes. However, the EVC mutations only occur in a small proportion of EvC patients. Recently, mutations in a new gene, EVC2, were found to be associated with other EvC cases. The EVC and EVC2 are located close to each other in a head-to-head configuration and may be functionally related. In this study, we report identification of a novel heterozygous deletion in the EVC2 that is responsible for autosomal dominant Weyers acrofacial dysostosis in a large Chinese family. This constitutes the first report of Weyers acrofacial dysostosis caused by this gene. Hence, the spectrum of malformation syndromes due to EVC2 mutations is further extended. Our data provides conclusive evidence that Weyers acrofacial dysostosis and EvC syndrome are allelic and genetically heterogeneous conditions.
Starting Page	199
Ending Page	205
Page Count	7
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	119
Issue Number	1-2
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2006-01-11
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Metabolic Diseases Internal Medicine Molecular Medicine Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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