Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene

Biochem Biophys Res Commun. 1996 Oct 3;227(1):236-9. doi: 10.1006/bbrc.1996.1495.

Abstract

Type I thanatophoric dysplasia (TD) is typically a lethal neonatal dwarfism, but a limited number of cases of type I TD cases survive more than one year, suggesting genetic heterogeneity. In this study, we analyzed the fibroblast growth factor receptor 3 (FGFR3) gene in 5 Japanese cases of type I TD with clinical symptoms ranging from lethal to long-survival. In every case, nucleotide sequence analysis of cDNA revealed a C to T transition at nucleotide 742 (C742T) in one allele of the FGFR3 gene, suggesting that type I TD is a rather homogeneous genetic condition, irrespective of clinical course. No association was found between C742T and C882T, although both nucleotides changes were from CpG dinucleotide in a near location.

MeSH terms

  • Cell Line
  • Child
  • Child, Preschool
  • Cytidine
  • Genes, Lethal
  • Genetic Heterogeneity
  • Humans
  • Japan
  • Mutation*
  • Protein-Tyrosine Kinases*
  • Receptor, Fibroblast Growth Factor, Type 3
  • Receptors, Fibroblast Growth Factor / genetics*
  • Thanatophoric Dysplasia / ethnology
  • Thanatophoric Dysplasia / genetics*
  • Thymine

Substances

  • Receptors, Fibroblast Growth Factor
  • Cytidine
  • FGFR3 protein, human
  • Protein-Tyrosine Kinases
  • Receptor, Fibroblast Growth Factor, Type 3
  • Thymine