Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene

Am J Med Genet. 2001 Nov 22;104(2):112-9. doi: 10.1002/ajmg.10049.

Abstract

A unique Pro250Arg point mutation in fibroblast growth factor receptor 3 (FGFR3) was initially reported by Bellus et al. [1996: Nat Genet 14:174-176] and the phenotype subsequently by Muenke et al. [1997: Am J Hum Genet 60:555-564], Reardon et al. [1997: J Med Genet 34:632-636], and Graham et al. [1998: Am J Med Genet 77:322-329]. These authors emphasized the pleiotropic nature of this form of coronal craniosynostosis, including brachydactyly with carpal and/or tarsal coalitions, with other anomalies at lower frequency. We report on a family with autosomal dominant coronal synostosis, segmentation and fusion anomalies of the vertebra and ribs, and Sprengel shoulder due to the Pro250Arg mutation. We also report a single case with an identical phenotype without the mutation.

Publication types

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

MeSH terms

  • Adult
  • Arginine / chemistry
  • Child, Preschool
  • Craniosynostoses / diagnosis*
  • Craniosynostoses / genetics*
  • Facies
  • Family Health
  • Female
  • Humans
  • Klippel-Feil Syndrome / diagnosis*
  • Klippel-Feil Syndrome / genetics*
  • Male
  • Mutation*
  • Pedigree
  • Point Mutation
  • Proline / chemistry
  • Protein-Tyrosine Kinases*
  • Receptor, Fibroblast Growth Factor, Type 3
  • Receptors, Fibroblast Growth Factor / genetics*
  • Shoulder / abnormalities*
  • Syndrome

Substances

  • Receptors, Fibroblast Growth Factor
  • Arginine
  • Proline
  • FGFR3 protein, human
  • Protein-Tyrosine Kinases
  • Receptor, Fibroblast Growth Factor, Type 3

Associated data

  • OMIM/148870
  • OMIM/148900
  • OMIM/184400
  • OMIM/314600