Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene

PEHLİVAN S., Ozkinay F., Okutman O., Cogulu O., Ozcan A., Cankaya T., ...More

TURKISH JOURNAL OF PEDIATRICS, vol.45, no.2, pp.99-101, 2003 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 45 Issue: 2
  • Publication Date: 2003
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.99-101
  • Keywords: achondroplasia, fibroblast growth factor receptor-3 gene, DNA, restriction endonuclease analysis, GROWTH-FACTOR RECEPTOR-3, TRANSMEMBRANE MUTATION, CHROMOSOME 4P, HYPOCHONDROPLASIA, MAPS
  • Istanbul University Affiliated: No


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.