Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation

Am J Med Genet A. 2005 Oct 15;138A(3):278-81. doi: 10.1002/ajmg.a.30944.

Abstract

Fibroblast growth factor receptor 2 (FGFR2) mutations are associated with syndromic and non-syndromic craniosynostoses. More recently it has been recognized that FGFR2 may have a role in the development of the anterior chamber of the eye following the finding of a specific FGFR2 mutation (p.Ser351Cys, c.1231 C --> G) with anterior chamber dysgenesis. Affected patients had a severe craniofacial phenotype and clinical course. A child with a different FGFR2 mutation (p.Ala344Ala, c1032 G --> A heterozygote), premature fusion of the sagittal suture, and an Axenfeld-Rieger anomaly but otherwise normal clinical course is reported. The case provides further evidence that FGFR2 has a role in anterior chamber embryogenesis.

Publication types

  • Case Reports

MeSH terms

  • Anterior Chamber / abnormalities*
  • Arnold-Chiari Malformation / genetics
  • Child
  • Craniosynostoses / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Middle Aged
  • Mutation
  • Phenotype*
  • Point Mutation
  • Polymerase Chain Reaction
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics*

Substances

  • Receptor, Fibroblast Growth Factor, Type 2