A novel mutation in FGFR2

Am J Med Genet A. 2015 Jan;167A(1):123-7. doi: 10.1002/ajmg.a.36827. Epub 2014 Nov 25.


Craniosynostosis is a congenital anomaly that can occur as an isolated condition or as part of a syndrome. Although several genes are known to cause syndromic craniosynostosis, only 24% can be attributed to known genes. Therefore, it is likely that more mutations and other genes are involved. We present the identification of a novel point mutation in fibroblast growth factor receptor 2 (FGFR2), c.812G>T, p.(Gly271Val) or c.1851G>C, p.(Leu617Phe). Furthermore, we describe a mutation that has been identified just recently, c.812G>T, (p.Gly271Val) or c.1851G>C, (p.Leu617Phe). In addition, we describe findings from a sequence analysis of all coding exons and exon/intron boundaries of FGFR2 performed on 124 patients with syndromic craniosynostosis.

Keywords: FGFR2; case reports; craniosynostosis; sequence analysis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Exons / genetics
  • Facies
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Introns / genetics
  • Male
  • Mutation / genetics*
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics*
  • Sequence Analysis, DNA


  • Receptor, Fibroblast Growth Factor, Type 2