title: Achondroplasia in Sweden caused by the G1138A mutation in FGFR3.
abstract: Achondroplasia, an autosomal dominant inherited disorder, is one of the most common forms of skeletal dysplasia resulting in disproportionate extreme shortness. Recently, two point mutations, both affecting nucleotide 1138 in the fibroblast growth factor receptor type 3 (FGFR3) gene, were found to be the cause of the disorder. We investigated DNA from 16 Swedish patients with achondroplasia for the presence of these mutations. All patients were found to be heterozygous for the G to A transition at nucleotide 1138. Our data thus support previous reports showing a striking genetic homogeneity, in that almost all achondroplasia patients have the FGFR3 G380R mutation at the protein level.
authors.affiliation: Department of Clinical Genetics, University Hospital, Uppsala, Sweden.
authors.forename: A
authors.initials: A
authors.lastname: Alderborn
authors.forename: M
authors.initials: M
authors.lastname: Anvret
authors.forename: K H
authors.initials: KH
authors.lastname: Gustavson
authors.forename: L
authors.initials: L
authors.lastname: Hagenäs
authors.forename: C
authors.initials: C
authors.lastname: Wadelius
mesh_terms: D000130:Achondroplasia / Q000235:genetics*; D004252:DNA Mutational Analysis; D005346:Fibroblast Growth Factors; D006801:Humans; D017354:Point Mutation; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013548:Sweden
chemical_list: D017468:Receptors, Fibroblast Growth Factor; D005346:Fibroblast Growth Factors; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3