Mutations of the Fibroblast Growth Factor Receptor-3 Gene in Achondroplasia

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Abstract

Achondroplasia (ACH), the most common cause of chondrodysplasia in man (1 in 15,000 live births), is an autosomal dominant condition of unknown origin characterized by short-limbed dwarfism and macrocephaly. Recently, a gene for ACH has been mapped to chromosome 4p16.3. The genetic interval encompassing the disease gene contains a member of the fibroblast growth factor receptor (FGFR) family which is expressed in articular chondrocytes (FGFR,). We report here recurrent missense mutations, in a CpG doublet of the transmembrane domain of the FGFR, protein (G380R) in 17 sporadic cases and 6 unrelated familial forms of ACH and show that the mutant genotype segregates with the disease in these families. Thus, it appears that recurrent mutations of a single amino acid in the transmembrane domain of the FGFR, protein account for all cases (23/23) of achondroplasia in our series.

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Journal

Journal ID (publisher-id): HRE

Journal ID (nlm-ta): Horm Res Paediatr

Journal ID (doi): 10.1159/issn.1663-2818

Title: Hormone Research in Paediatrics

Publisher: S. Karger AG

ISBN: 978-3-8055-6280-5

ISBN: 978-3-318-00020-7

ISSN (Print): 1663-2818

ISSN (Electronic): 1663-2826

Publication date Subscription-year: 1996

Publication date (Print): 1996

Publication date (Electronic): 09 December 2008

Volume: 45

Issue: 1-2

Pages: 108-110

Affiliations

Service de Génétique et Unité de Recherches sur les Handicaps Génétiques de l’Enfant, INSERM U 393, CNRS ER 88, Institut Necker, Hôpital des Enfants Malades, Paris, France

Article

Publisher ID: 184768 Other ID: Horm Res 1996;45:108–110

DOI: 10.1159/000184768

PubMed ID: 8742128

SO-VID: 11880c95-9a2a-4741-bb23-5ae38b3cf698

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Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

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