Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS.

@article{Santos2007ClinicalHI,
  title={Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS.},
  author={Helo{\'i}sa Gonçalves Santos and Maria do Rosario Alves de Almeida and Helena C Fernandes and Andrew O M Wilkie},
  journal={American journal of medical genetics. Part A},
  year={2007},
  volume={143 4},
  pages={355-9}
}
In classical achondroplasia (Ach), a glycine residue is replaced by an arginine at codon 380 in exon 10 of the fibroblast growth factor receptor 3 gene (FGFR3). Here we report on a mother and daughter with hypochondroplasia (Hch) caused by a new heterozygous double mutation (1138_1139GG > AA) at the same codon 380, but encoding a lysine instead of the usual arginine. Previous functional assays of these codon 380 amino acid substitutions demonstrated a lesser activation of receptor signaling by… CONTINUE READING