Objective: Thanatophoric dysplasia type 1 (TD 1) is typically a lethal dwarfism. We report our findings of fibroblast growth factor receptor 3 (FGFR3) mutations in Chinese cases of TD 1.
Methods: Ten cases of TD 1 were identified prenatally by ultrasound. The FGFR3 gene was analyzed using direct DNA sequencing of the selected regions (exons 7, 10, 15, and 19) previously reported to contain mutations for TD 1.
Results: A heterozygous C742T (R248C) mutation was found in 9 of the 10 cases. The remaining case was negative for mutations involved in exons 7, 10, 15 and 19.
Conclusion: The results suggest that the R248C mutation may serve as the primarily targeted one of the FGFR3 gene for rapid molecular diagnosis of TD 1.