Title

A new gene, EVC2, is mutated in Ellis-van Creveld syndrome

UMMS Affiliation

Department of Pediatrics; Brudnick Neuropsychiatric Research Institute, Department of Psychiatry

Date

12-2002

Document Type

Article

Medical Subject Headings

Ellis-Van Creveld Syndrome; Female; Genetic Heterogeneity; Humans; *Jews; Male; Pedigree; Proteins; Sequence Analysis, DNA

Disciplines

Neurology | Pediatrics | Psychiatry

Abstract

Ellis-van Creveld syndrome (EvC; MIM 225500) is an autosomal recessive chondrodysplastic dwarfism. Thus far, the identified mutations in the EVC gene located on chromosome 4p16 have only accounted for illness in a small proportion of affected individuals. In this report we describe a novel gene, EVC2, that is mutated in an Ashkenazi individual with EvC syndrome. Our findings demonstrate for the first time that the heterogeneity observed in this disorder is not solely the result of mutations in a single gene.

Rights and Permissions

Citation: Mol Genet Metab. 2002 Dec;77(4):291-5. DOI 10.1016/S1096-7192(02)00178-6

Related Resources

Link to Article in PubMed

PubMed ID

12468274