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

M Galdzicka; S Patnala; M.G Hirshman; J.-F Cai; H Nitowsky; J A Egeland; E.I Ginns

doi:10.1016/S1096-7192(02)00178-6

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

Journal article

Peer reviewed

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

M Galdzicka, S Patnala, M.G Hirshman, J.-F Cai, H Nitowsky, J A Egeland and E.I Ginns

Molecular genetics and metabolism, Vol.77(4), pp.291-295

2002

DOI: https://doi.org/10.1016/S1096-7192(02)00178-6

PMID: 12468274

Abstract

Dwarfism

EVC2

Ellis–van Creveld

Chromosome 4p16

EvC

Mutation detection

Mendelian inheritance

Bone abnormalities

Genes in development

Atrial-septal defect

Ectodermal dysplasia

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.

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Collaboration types: Domestic collaboration
Citation topics: 1 Clinical & Life Sciences; 1.108 Molecular & Cell Biology - Cancer & Development; 1.108.1327 Autosomal Dominant Polycystic Kidney Disease
Web Of Science research areas: Endocrinology & Metabolism; Genetics & Heredity; Medicine, Research & Experimental
ESI research areas: Molecular Biology & Genetics

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Details

Title: A new gene, EVC2, is mutated in Ellis–van Creveld syndrome
Creators: M Galdzicka - Brudnick Neuropsychiatric Research Institute, University of Massachusetts Medical School, Room 107, 303 Belmont Street, Worcester, MA 01604, USA
S Patnala - Brudnick Neuropsychiatric Research Institute, University of Massachusetts Medical School, Room 107, 303 Belmont Street, Worcester, MA 01604, USA
M.G Hirshman - Brudnick Neuropsychiatric Research Institute, University of Massachusetts Medical School, Room 107, 303 Belmont Street, Worcester, MA 01604, USA
J.-F Cai - Brudnick Neuropsychiatric Research Institute, University of Massachusetts Medical School, Room 107, 303 Belmont Street, Worcester, MA 01604, USA
H Nitowsky - Department of Obstetrics and Gynecology, Albert Einstein College of Medicine, Bronx, NY 10461, USA
J A Egeland - Brudnick Neuropsychiatric Research Institute, University of Massachusetts Medical School, Room 107, 303 Belmont Street, Worcester, MA 01604, USA
E.I Ginns - Brudnick Neuropsychiatric Research Institute, University of Massachusetts Medical School, Room 107, 303 Belmont Street, Worcester, MA 01604, USA
Publication Details: Molecular genetics and metabolism, Vol.77(4), pp.291-295
Publisher: Elsevier Inc
Language: English
Resource Type: Journal article
PMID: 12468274
Record Identifier: 991031577626802976