Hormone Research in Paediatrics
Session 4: Recent Advances
Mutations of the Fibroblast Growth Factor Receptor-3 Gene in AchondroplasiaRousseau F. · Bonaventure J. · Legeai-Mallet L. · Pelet A. · Rozet J.-M. · Maroteaux P. · Le Merrer M. · Munnich A.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
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Article / Publication Details
Published online: December 09, 2008
Issue release date: 1996
Number of Print Pages: 3
Number of Figures: 0
Number of Tables: 0
ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)
For additional information: https://www.karger.com/HRP
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.
© 1996 S. Karger AG, Basel
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Article / Publication Details
Published online: December 09, 2008
Issue release date: 1996
Number of Print Pages: 3
Number of Figures: 0
Number of Tables: 0
ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)
For additional information: https://www.karger.com/HRP
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