Horm Res. 1996;45(1-2):108-10.

Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.

Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, Le Merrer M, Munnich A.

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Service de Génétique, INSERM U 393, Hopital des Enfants, Malades, Paris, France.

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 (FGFR3). We report here recurrent missense mutations, in a CpG doublet of the transmembrane domain of the FGFR3 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 FGFR3 protein account for all cases (23/23) of achondroplasia in our series.

PMID:: 8742128; [PubMed - indexed for MEDLINE]

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Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. [Nature. 1994]
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, Le Merrer M, Munnich A. Nature. 1994 Sep 15; 371(6494):252-4.
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism. [Am J Med Genet. 1996]
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.
Bonaventure J, Rousseau F, Legeai-Mallet L, Le Merrer M, Munnich A, Maroteaux P. Am J Med Genet. 1996 May 3; 63(1):148-54.
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Vajo Z, Francomano CA, Wilkin DJ. Endocr Rev. 2000 Feb; 21(1):23-39.

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