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Lookup NU author(s): Dr Victor Ruiz-Perez, Dr Michael Wright, Professor Judith Goodship
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Ellis-van Creveld syndrome (EvC, MIM 225500) is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly and dysplastic nails and teeth. Congenital cardiac defects, most commonly a defect of primary atrial septation producing a common atrium, occur in 60% of affected individuals. The disease was mapped to chromosome 4p16 in nine Amish subpedigrees and single pedigrees from Mexico, Ecuador and Brazil. Weyers acrodental dysostosis (MIM 193530), an autosomal dominant disorder with a similar but milder phenotype, has been mapped in a single pedigree to an area including the EvC critical region. We have identified a new gene (EVC), encoding a 992-amino-acid protein, that is mutated in individuals with EvC. We identified a splice-donor change in an Amish pedigree and six truncating mutations and a single amino acid deletion in seven pedigrees. The heterozygous carriers of these mutations did not manifest features of EvC. We found two heterozygous missense mutations associated with a phenotype, one in a man with Weyers acrodental dysostosis and another in a father and his daughter, who both have the heart defect characteristic of EvC and polydactyly, but not short stature. We suggest that EvC and Weyers acrodental dysostosis are allelic conditions.
Author(s): Goodship J; Ruiz-Perez VL; Wright M; Spranger S; Marino B; Dallapiccola B; Meitinger T; Polymeropoulos MH; Ide SE; Strom TM; Lorenz B; Wilson D; Woods K; King L; Francomano C; Freisinger P
Publication type: Letter
Publication status: Published
Journal: Nature Genetics
Year: 2000
Volume: 24
Issue: 3
Pages: 283-286
ISSN (print): 1061-4036
ISSN (electronic): 1546-1718
URL: http://dx.doi.org/10.1038/73508
DOI: 10.1038/73508
PubMed id: 10700184
