The University of Southampton
University of Southampton Institutional Repository

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis
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.
1061-4036
283-286
Ruiz-Perez, V.L.
236d6911-f0bc-45a3-894c-c2d6b6c0c1f3
Ide, S.E.
69886749-a365-45bd-86a9-81be83043c84
Strom, T.M.
1886d8af-64d0-4c7b-bf81-3c7a6f684a82
Lorenz, B.
15ee974c-55d8-4855-bd3a-7674979c1a8c
Wilson, D.
d732d67c-ce3a-4a08-afbf-c262d62e7b58
Woods-Townsend, K.
af927fa3-30b6-47d9-8b4d-4d254b3a7aab
King, L.
ca67081e-4a76-4438-b430-81d324d53307
Francomano, C.
9264a846-ed7f-4f6a-98bc-8a9761c75691
Freisinger, P.
71fe9466-c6ff-42b6-89ad-3be271b42185
Spranger, S.
bb3c6776-2588-41c9-bdcc-9f6ee81a1e29
Marino, B.
be5d39fd-51a1-4ee6-96c8-b1a087b4ef5c
Dallapiccola, B.
687bbc09-80a9-4579-915b-826ee4e0e963
Wright, M.
b08f43d4-70f7-4e7d-9784-68f01d2b4909
Meitinger, T.
ec2728d0-0de1-4489-8756-107ee4351439
Polymeropoulos, M.H.
cef58f70-4545-49d8-9d7c-10e44659d994
Goodship, J.
e9a9e01a-a73f-42fa-81df-9354a8af731b
Ruiz-Perez, V.L.
236d6911-f0bc-45a3-894c-c2d6b6c0c1f3
Ide, S.E.
69886749-a365-45bd-86a9-81be83043c84
Strom, T.M.
1886d8af-64d0-4c7b-bf81-3c7a6f684a82
Lorenz, B.
15ee974c-55d8-4855-bd3a-7674979c1a8c
Wilson, D.
d732d67c-ce3a-4a08-afbf-c262d62e7b58
Woods-Townsend, K.
af927fa3-30b6-47d9-8b4d-4d254b3a7aab
King, L.
ca67081e-4a76-4438-b430-81d324d53307
Francomano, C.
9264a846-ed7f-4f6a-98bc-8a9761c75691
Freisinger, P.
71fe9466-c6ff-42b6-89ad-3be271b42185
Spranger, S.
bb3c6776-2588-41c9-bdcc-9f6ee81a1e29
Marino, B.
be5d39fd-51a1-4ee6-96c8-b1a087b4ef5c
Dallapiccola, B.
687bbc09-80a9-4579-915b-826ee4e0e963
Wright, M.
b08f43d4-70f7-4e7d-9784-68f01d2b4909
Meitinger, T.
ec2728d0-0de1-4489-8756-107ee4351439
Polymeropoulos, M.H.
cef58f70-4545-49d8-9d7c-10e44659d994
Goodship, J.
e9a9e01a-a73f-42fa-81df-9354a8af731b

Ruiz-Perez, V.L., Ide, S.E., Strom, T.M., Lorenz, B., Wilson, D., Woods-Townsend, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M.H. and Goodship, J. (2000) Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nature Genetics, 24 (3), 283-286. (doi:10.1038/73508). (PMID:10700184)

Record type: Article

Abstract

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.

Full text not available from this repository.

More information

Published date: March 2000
Organisations: Faculty of Medicine, Southampton Education School, Mathematics, Science & Health Education

Identifiers

Local EPrints ID: 340437
URI: https://eprints.soton.ac.uk/id/eprint/340437
ISSN: 1061-4036
PURE UUID: 99b09ad6-dc38-4979-9064-3c2f10a254e8
ORCID for K. Woods-Townsend: ORCID iD orcid.org/0000-0003-3376-6988

Catalogue record

Date deposited: 26 Mar 2015 11:41
Last modified: 07 Aug 2019 00:41

Export record

Altmetrics

Contributors

Author: V.L. Ruiz-Perez
Author: S.E. Ide
Author: T.M. Strom
Author: B. Lorenz
Author: D. Wilson
Author: L. King
Author: C. Francomano
Author: P. Freisinger
Author: S. Spranger
Author: B. Marino
Author: B. Dallapiccola
Author: M. Wright
Author: T. Meitinger
Author: M.H. Polymeropoulos
Author: J. Goodship

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of https://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×