EVC – Weyers Acrofacial Dysostosis

EVC is implicated in autosomal dominant acrofacial dysostosis, Weyers type, a mild allelic disorder of Ellis–van Creveld syndrome characterized by postaxial polydactyly, nail dysplasia and dental anomalies. Initial mapping to 4p16 in Amish and other pedigrees led to identification of heterozygous missense and small deletion variants in EVC in three affected individuals: a man with classic Weyers features and a father–daughter pair with atrial septation defects and polydactyly, segregating with the variant c.919T>C (p.Ser307Pro) ([PMID:10700184]).

References

• Nature genetics • 2000 • Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis PMID:10700184

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