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

Xiaoqian Ye, Guangtai Song, Mingwen Fan, Lisong Shi, Ethylin Wang Jabs, Shangzhi Huang, Ruiqiang Guo, Zhuan Bian

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)199-205
Number of pages7
JournalHuman Genetics
Volume119
Issue number1-2
DOIs
StatePublished - Mar 2006

Fingerprint

Mutation
Genes
Ellis-Van Creveld Syndrome
Nails
Tooth
Phenotype
Weyers acrofacial dysostosis
Postaxial Polydactyly

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Ye, X., Song, G., Fan, M., Shi, L., Jabs, E. W., Huang, S., ... Bian, Z. (2006). A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. Human Genetics, 119(1-2), 199-205. https://doi.org/10.1007/s00439-005-0129-2

A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. / Ye, Xiaoqian; Song, Guangtai; Fan, Mingwen; Shi, Lisong; Jabs, Ethylin Wang; Huang, Shangzhi; Guo, Ruiqiang; Bian, Zhuan.

In: Human Genetics, Vol. 119, No. 1-2, 03.2006, p. 199-205.

Research output: Contribution to journalArticle

Ye, X, Song, G, Fan, M, Shi, L, Jabs, EW, Huang, S, Guo, R & Bian, Z 2006, 'A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis', Human Genetics, vol. 119, no. 1-2, pp. 199-205. https://doi.org/10.1007/s00439-005-0129-2
Ye, Xiaoqian ; Song, Guangtai ; Fan, Mingwen ; Shi, Lisong ; Jabs, Ethylin Wang ; Huang, Shangzhi ; Guo, Ruiqiang ; Bian, Zhuan. / A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. In: Human Genetics. 2006 ; Vol. 119, No. 1-2. pp. 199-205.
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