Mutation in the gene encoding the fibroblast growth factor receptor-3 in Korean children with achondroplasia

Abstract Background. Achondroplasia (ACH) is the most common form of osteochondrodysplasia, and is mostly associated with a point mutation in the gene on the transmembrane domain of fibroblast growth factor receptor-3 (FGFR-3) on chromosome 4p.
Methods: We investigated the mutations in the gene encoding FGFR-3 in 15 Korean children with ACH, using polymerase chain reaction (PCR) coupled with direct sequencing.
Results: In this study, all children with ACH showed the same mutation as those reported in France, USA and Japan; a G→A transition at position 1138 of the coding sequence, resulting in the substitution of arginine for glycine at position 380 of the mature protein.
Conclusions: This consistent point mutation of Korean children with ACH indicates there is no significant racial difference in the pathogenesis of ACH, compared with data from Caucasian and Japanese children with ACH.