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Achondroplasia in Sweden caused by the G1 138A mutation in FGFR3
Author(s) -
Alderborn A,
Anvret M,
Gustavson KH,
Hagenäs L,
Wadelius C
Publication year - 1996
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1996.tb13963.x
Subject(s) - achondroplasia , fibroblast growth factor receptor 3 , medicine , dysplasia , mutation , point mutation , osteochondrodysplasia , genetics , dwarfism , fibroblast growth factor receptor , gene , pediatrics , receptor , fibroblast growth factor , pathology , biology
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.