title: Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.
abstract: The craniosynostosis syndromes are a heterogeneous group of sporadic, autosomal dominant disorders with significant clinical overlap. Recently, we described a large family with autosomal dominant craniosynostosis suggestive of Saethre-Chotzen syndrome, in which linkage to the Saethre-Chotzen syndrome loci on 7p had been excluded. We now report the presence of a mutation in the fibroblast growth factor receptor 3 (FGFR3) in this family. The mutation, P250R, had been previously reported in 10 patients with non-syndromic craniosynostosis. Variable expression of this mutation is evident especially in two additional members of this family, one of whom is severely affected with pancraniosynostosis. The family provides a further example of genetic heterogeneity and variable expression of the craniosynostosis syndromes and broadens the phenotypic spectrum associated with the FGFR3 mutation P250R. In addition, we found a polymorphism (F384L) in the transmembrane domain of FGFR3 which occurs with a frequency of 3% in the Turkish population but is uncommon among Germans.
authors.affiliation: Abteilung für Medizinische Genetik, Ludwig-Maximilians-Universität, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Golla
authors.forename: P
authors.initials: P
authors.lastname: Lichmer
authors.forename: S
authors.initials: S
authors.lastname: von Gernet
authors.forename: A
authors.initials: A
authors.lastname: Winterpacht
authors.forename: J
authors.initials: J
authors.lastname: Fairley
authors.forename: J
authors.initials: J
authors.lastname: Murken
authors.forename: S
authors.initials: S
authors.lastname: Schuffenhauer
mesh_terms: D003398:Craniosynostoses / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3