Achondroplasia is defined by recurrent G380R mutations of FGFR3.

@article{Bellus1995AchondroplasiaID,
  title={Achondroplasia is defined by recurrent G380R mutations of FGFR3.},
  author={Gary A. Bellus and Timothy Hefferon and R I Ortiz de Luna and Jacqueline Tauber Hecht and William A Horton and M{\^o}nica Rodrigues Ferreira Machado and Ilkka I Kaitila and Iain Mcintosh and Clair A. Francomano},
  journal={American journal of human genetics},
  year={1995},
  volume={56 2},
  pages={368-73}
}
Genomic DNA from 154 unrelated individuals with achondroplasia was evaluated for mutations in the fibroblast growth factor receptor 3 (FGFR3) transmembrane domain. All but one, an atypical case, were found to have a glycine-to-arginine substitution at codon 380. Of these, 150 had a G-to-A transition at nt 1138, and 3 had a G-to-C transversion at this same position. On the basis of estimates of the prevalence of achondroplasia, the mutation rate at the FGFR3 1138 guanosine nucleotide is two to… CONTINUE READING