ABSTRACT
In this study, the identification of a recurrent missense mutation [G 1138 A] in the transmembrane domain of the fibroblast growth factor receptor-3 [FGFR3] protein with glycine substituted with arginine at a residue 380 [G380R] was reported. It was shown that the mutant genotype was segregated in eight sporadic cases [out of eleven] of achondroplasia patients. The identified common mutation was in the heterozygous state in all instances, the homozygous form of the mutation was not observed. The G380R was not identified in the three cases in whom the clinical and radiological features of achondroplasia were shown, indicating the possibility of the presence of another, less frequent, FGFR3 gene mutation that might account for the ACH- phenotype and need a further delineation. In this analysis, the presence of the G380R mutation in a variety of Egyptian ACH patients was confirmed, who had not been previously reported on