Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.
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.
Lowry
R B
RB
Department of Medical Genetics, Alberta Children's Hospital and University of Calgary, Calgary, Alberta, Canada. brian.lowry@crha-health.ab.ca
Jabs
E W
EW
Graham
G E
GE
Gerritsen
J
J
Fleming
J
J
D000328:Adult; D001120:Arginine / Q000737:chemistry; D002675:Child, Preschool; D003398:Craniosynostoses / Q000175:diagnosis* / Q000235:genetics*; D019066:Facies; D005192:Family Health; D005260:Female; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation; D011392:Proline / Q000737:chemistry; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D012782:Shoulder / Q000002:abnormalities*; D013577:Syndrome
D017468:Receptors, Fibroblast Growth Factor; D001120:Arginine; D011392:Proline; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3