RESUMEN
Objective: Achondroplasia, the most common form of short-limbed dwarfism in humans, occurs between 1 in 15,000 and 40,000 live births. More then 97% of persons with achondroplasia have a Gly380Arg mutation in the transmembrane domain of the fibroblast growth factor receptor [FGFR]- 3 gene. This stydy aims to determine if this mutation is common among Egyptian patients or not
Patients and Methods: 14 sporadic unrelated Egyptian patients diagnosed clinically to have achondroplasia, were evaluated for G to A and G to C transition at position 1138 of the fibroblast growth factor receptor -3 gene
Results: All 14 patients evaluated for G to A and G to C transversion showed G to A transition and non of the patients showed G to C transition
Conclusion: Results demonstrated that Gly380Arg is the predominant mutation in all achondroplasia patients studied, confirming the remarkable genetic homogeneity of achondroplasia in the previous reports about incidence of such mutation in other populations and suggest that nucleotide 1138 of the FGFR3 gene is the most mutable nucleotide described so far in the human genome