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A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.
Hum Genet. 2006 Mar; 119(1-2):199-205.HG

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.

Authors+Show Affiliations

Key Laboratory of Oral Biomedical Engineering of Ministry of Education, Department of Endodontics, Hospital and School of Stomatology, Wuhan University, Luoyu Road 237, 430079 Wuhan, Peoples Republic of China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16404586

Citation

Ye, Xiaoqian, et al. "A Novel Heterozygous Deletion in the EVC2 Gene Causes Weyers Acrofacial Dysostosis." Human Genetics, vol. 119, no. 1-2, 2006, pp. 199-205.
Ye X, Song G, Fan M, et al. A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. Hum Genet. 2006;119(1-2):199-205.
Ye, X., Song, G., Fan, M., Shi, L., Jabs, E. W., Huang, S., Guo, R., & Bian, Z. (2006). A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. Human Genetics, 119(1-2), 199-205.
Ye X, et al. A Novel Heterozygous Deletion in the EVC2 Gene Causes Weyers Acrofacial Dysostosis. Hum Genet. 2006;119(1-2):199-205. PubMed PMID: 16404586.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. AU - Ye,Xiaoqian, AU - Song,Guangtai, AU - Fan,Mingwen, AU - Shi,Lisong, AU - Jabs,Ethylin Wang, AU - Huang,Shangzhi, AU - Guo,Ruiqiang, AU - Bian,Zhuan, Y1 - 2006/01/11/ PY - 2005/10/21/received PY - 2005/12/16/accepted PY - 2006/1/13/pubmed PY - 2007/4/3/medline PY - 2006/1/13/entrez SP - 199 EP - 205 JF - Human genetics JO - Hum Genet VL - 119 IS - 1-2 N2 - 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. SN - 0340-6717 UR - https://www.unboundmedicine.com/medline/citation/16404586/A_novel_heterozygous_deletion_in_the_EVC2_gene_causes_Weyers_acrofacial_dysostosis_ L2 - https://dx.doi.org/10.1007/s00439-005-0129-2 DB - PRIME DP - Unbound Medicine ER -