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.
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Acknowledgments
We acknowledge all our family members for their enthusiastic collaborations throughout the study. The research was funded by the Mega-Projects of Science Research for the 10th Five-Year Plan (2004BA720A24), Innovative Research Team of Hubei Province, China (2004ABC004) and the International Collaborative Genetics Research Training Grant (NIH D43 TW06176).
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X. Ye and G. Song contributed equally to this work
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Ye, X., Song, G., Fan, M. et al. A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. Hum Genet 119, 199–205 (2006). https://doi.org/10.1007/s00439-005-0129-2
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DOI: https://doi.org/10.1007/s00439-005-0129-2