Analysis of the alternative splicing of an FGFR2 transcript due to a novel 5' splice site mutation (1084+1G>A): case report

Cleft Palate Craniofac J. 2012 Jan;49(1):104-8. doi: 10.1597/10-217. Epub 2011 Apr 27.

Abstract

Craniosynostosis is characterized by premature fusion of one or more cranial sutures and is associated with mutations in fibroblast growth factor receptor (FGFR) genes. Here we describe a novel mutation (1084+1G>A) in the FGFR2 gene of a patient with isolated bicoronal synostosis. We detected two isoforms that result from the mutation and are characterized, respectively, by exon skipping and the use of a cryptic splice site. Interestingly, the alternatively spliced forms of FGFR2 appear to induce fusion of the cranial sutures suggesting that the mutation acts via a gain-of-function mechanism rather than a loss of protein functionality.

Publication types

  • Case Reports

MeSH terms

  • Alternative Splicing*
  • Child
  • Craniosynostoses / diagnostic imaging
  • Craniosynostoses / genetics*
  • Humans
  • Imaging, Three-Dimensional
  • Male
  • Point Mutation
  • Polymerase Chain Reaction
  • RNA Splice Sites
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics*
  • Tomography, X-Ray Computed

Substances

  • RNA Splice Sites
  • Receptor, Fibroblast Growth Factor, Type 2