A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome

Eur J Hum Genet. 2005 Apr;13(4):503-5. doi: 10.1038/sj.ejhg.5201325.

Abstract

We report a family heterozygous for a newly identified mutation in the tyrosine kinase I domain of the FGFR2 gene (1576A > G, encoding the missense substitution Lys526Glu), associated with variable expressivity of Crouzon syndrome, including clinical nonpenetrance. Our observations expand both the clinical and molecular spectrum of this unusual subset of FGFR2 mutations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acrocephalosyndactylia / diagnosis
  • Acrocephalosyndactylia / genetics*
  • Adult
  • Amino Acid Sequence
  • Amino Acid Substitution
  • Child
  • Child, Preschool
  • Craniofacial Dysostosis / diagnosis
  • Craniofacial Dysostosis / genetics*
  • Female
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation, Missense / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • Receptor Protein-Tyrosine Kinases / genetics*
  • Receptor, Fibroblast Growth Factor, Type 2
  • Receptors, Fibroblast Growth Factor / genetics*
  • Sequence Homology, Amino Acid

Substances

  • Receptors, Fibroblast Growth Factor
  • FGFR2 protein, human
  • Receptor Protein-Tyrosine Kinases
  • Receptor, Fibroblast Growth Factor, Type 2