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Ellis-van Creveld (EVC) syndrome. Unusual Oral defects in humans and EVC mutant mice

Lookup NU author(s): Dr Mitsushiro Nakatomi


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A number of gene mutations are known to cause human syndromes that involve oral defects. Among them, mutations of either EVC or EVC2 genes are known to be responsible for Ellis-van Creveld (EvC) syndrome. Oral anomalies of EvC syndrome are characterised by multiple frenula, congenital missing teeth, and abnormal tooth morphogenesis including a conical shape and enamel hypoplasia. Patients with EvC have skeletal defects and nail dysplasia, and often also show cardiac defects. Evc protein localises at the basal body of the primary cilium, where Hedgehog signalling is mediated, and cells lacking Evc exhibit a diminished response to the Hedgehog agonist purmorphamine. The dental anomalies noted in patients with EvC syndrome and mouse Evc mutants add further evidence supporting the important role of the primary cilium during tooth development.

Publication metadata

Author(s): Nakatomi M

Publication type: Article

Publication status: Published

Journal: Journal of Oral Biosciences

Year: 2009

Volume: 51

Issue: 3

Pages: 151-157

ISSN (print): 1349-0079

ISSN (electronic): 1880-3865

Publisher: Japanese Association for Oral Biology


DOI: 10.2330/joralbiosci.51.151


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