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Lookup NU author(s): Dr Victor Ruiz-Perez, Professor Judith Goodship
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Ellis-van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, nail dysplasia, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations. Weyers acrodental dysostosis (Weyers; OMIM 193530) is an allelic dominant disorder comprising polydactyly, nail dysplasia, and orofacial abnormalities. EvC results from loss-of-function mutations in EVC or EVC2, the phenotype associated with the mutations in these two genes being indistinguishable. Three convincing causative mutations have been identified in patients with Weyers acrodental dysostosis, which are clustered in the last coding exon of EVC2 and lead to production of a truncated protein lacking the final 43 amino acids. Localization and function of EVC and EVC2 are inferred from studying the murine orthologs. Both Evc and Evc2 proteins localize to the basal bodies of primary cilia and analysis of an Ellis-van Creveld mouse model, which includes the limb shortening and tooth abnormalities of EvC patients, has demonstrated Hedgehog signaling defects in the absence of Evc. The loss of Evc2 has not been studied directly, but Hedgehog signaling is impaired when a mutant murine Evc2 Weyer variant is expressed in vitro. We conclude that the phenotypic abnormalities in EvC and Weyers syndrome result from tissue specific disruption of the response to Hh ligands. (C) 2009 Wiley-Liss, Inc.
Author(s): Ruiz-Perez VL, Goodship JA
Publication type: Article
Publication status: Published
Journal: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics
Year: 2009
Volume: 151
Issue: 4
Pages: 341-351
ISSN (print): 1552-4868
ISSN (electronic): 1552-4876
Publisher: John Wiley & Sons, Inc.
URL: http://dx.doi.org/10.1002/ajmg.c.30226
DOI: 10.1002/ajmg.c.30226
Notes: Special Issue: Cilia and Ciliopathies
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