title: Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene.
abstract: Achondroplasia, the most common form of skeletal dysplasia in man, has autosomal dominant inheritance and causes severe dwarfism. More than 90% of patients with achondroplasia have a G to A transversion or G to C transversion at position 1138 of the fibroblast growth factor receptor-3 (FGFR3) gene resulting in the substitution of an arginine for a glycine residue at position 380 (G380R) of the FGFR3 protein. In this study, 12 unrelated Turkish patients with achondroplasia were evaluated for the G to A and G to C transversion at position 1138 of the FGFR3 gene. Eleven of 12 patients carried the G to A mutation heterozygously. None of the patients had the G to C mutation at the same position. In conclusion, the vast majority of Turkish achondroplasia patients have the same mutation that has been most often defined in patients with achondroplasia from other countries. Our results give further support to the fact that the G380R mutation of FGFR-3 is the most common mutation causing achondroplasia in different populations.
authors.affiliation: Department of Molecular Biology, Faculty of Science, Ege University, Izmir, Turkey.
authors.forename: Sacide
authors.initials: S
authors.lastname: Pehlivan
authors.forename: Ferda
authors.initials: F
authors.lastname: Ozkinay
authors.forename: Ozlem
authors.initials: O
authors.lastname: Okutman
authors.forename: Ozgür
authors.initials: O
authors.lastname: Coğulu
authors.forename: Ali
authors.initials: A
authors.lastname: Ozcan
authors.forename: Tufan
authors.initials: T
authors.lastname: Cankaya
authors.forename: Ayfer
authors.initials: A
authors.lastname: Ulgenalp
mesh_terms: D000130:Achondroplasia / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006801:Humans; D009154:Mutation; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D014421:Turkey
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3