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

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          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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          Author and article information

          Horm Res Paediatr
          Hormone Research in Paediatrics
          S. Karger AG
          09 December 2008
          : 45
          : 1-2
          : 108-110
          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
          184768 Horm Res 1996;45:108–110
          © 1996 S. Karger AG, Basel

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          Pages: 3
          Session 4: Recent Advances


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