S267P mutation in FGFR2: first report in a patient with Crouzon syndrome

J Craniofac Surg. 2015 Mar;26(2):592-4. doi: 10.1097/SCS.0000000000001527.

Abstract

It has been known for several years that mutations in the fibroblast growth factor receptor (FGFR2) result in syndromic craniosynostosis including Apert, Crouzon, or Pfeiffer syndromes. Here, we report on a child with a clinically diagnosed Crouzon syndrome that shows the missense point mutation S267P in FGFR2 gene. The mutation is firstly identified in Crouzon syndrome. Our observations expand the molecular spectrum of FGFR2 mutations in the syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • China
  • Craniofacial Dysostosis / diagnosis
  • Craniofacial Dysostosis / genetics*
  • DNA Mutational Analysis
  • Humans
  • Male
  • Mutation, Missense / genetics*
  • Point Mutation / genetics*
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics*
  • Sequence Analysis, DNA
  • Tomography, X-Ray Computed

Substances

  • FGFR2 protein, human
  • Receptor, Fibroblast Growth Factor, Type 2