A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.
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.
Ye
Xiaoqian
X
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.
Song
Guangtai
G
Fan
Mingwen
M
Shi
Lisong
L
Jabs
Ethylin Wang
EW
Huang
Shangzhi
S
Guo
Ruiqiang
R
Bian
Zhuan
Z
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004613:Ellis-Van Creveld Syndrome / Q000235:genetics / Q000473:pathology; D005192:Family Health; D005260:Female; D006579:Heterozygote; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000473:pathology*; D008565:Membrane Proteins; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion; D014071:Tooth Abnormalities
C406058:EVC protein, human; C473310:EVC2 protein, human; D036341:Intercellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D011506:Proteins