Human Genetics

, Volume 119, Issue 1, pp 199–205

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

Authors

  • Xiaoqian Ye
    • Key Laboratory of Oral Biomedical Engineering of Ministry of Education, Department of Endodontics, Hospital and School of StomatologyWuhan University
  • Guangtai Song
    • Department of Pediatric Dentistry, Hospital and School of StomatologyWuhan University
  • Mingwen Fan
    • Key Laboratory of Oral Biomedical Engineering of Ministry of Education, Department of Endodontics, Hospital and School of StomatologyWuhan University
  • Lisong Shi
    • Department of Medical Genetics, Institute of Basic Medical SciencesChinese Academy of Medical Sciences & Peking Union Medical College
  • Ethylin Wang Jabs
    • McKusick–Nathans Institute of Genetic MedicineJohns Hopkins University
  • Shangzhi Huang
    • Department of Medical Genetics, Institute of Basic Medical SciencesChinese Academy of Medical Sciences & Peking Union Medical College
  • Ruiqiang Guo
    • Department of UltrasonographyRenmin Hospital of Wuhan University
    • Key Laboratory of Oral Biomedical Engineering of Ministry of Education, Department of Endodontics, Hospital and School of StomatologyWuhan University
Original Investigation

DOI: 10.1007/s00439-005-0129-2

Cite this article as:
Ye, X., Song, G., Fan, M. et al. Hum Genet (2006) 119: 199. doi:10.1007/s00439-005-0129-2

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.

Copyright information

© Springer-Verlag 2006