MUTATION IN THE GENE ENCODING THE FIBROBLAST-GROWTH-FACTOR RECEPTOR-3IN KOREAN CHILDREN WITH ACHONDROPLASIA

Background: Achondroplasia (ACH) is the most common form of osteochond rodysplasia, and is mostly associated with a point mutation in the gen e on the transmembrane domain of fibroblast growth factor receptor-3 ( FGFR-3) on chromosome 4p. Methods: We investigated the mutations in th e gene encoding FGFR-3 in 15 Korean children with AGH, using polymeras e chain reaction (PCR) coupled with direct sequencing. Results: In thi s study, all children with ACH showed the same mutation as those repor ted in France, USA and Japan; a G-->A transition at position 1138 of t he coding sequence, resulting in the substitution of arginine for glyc ine at position 380 of the mature protein. Conclusions: This consisten t point mutation of Korean children with ACH indicates there is no sig nificant racial difference in the pathogenesis of AGH, compared with d ata from Caucasian and Japanese children with ACH.