title: A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
abstract: We report a family heterozygous for a newly identified mutation in the tyrosine kinase I domain of the FGFR2 gene (1576A > G, encoding the missense substitution Lys526Glu), associated with variable expressivity of Crouzon syndrome, including clinical nonpenetrance. Our observations expand both the clinical and molecular spectrum of this unusual subset of FGFR2 mutations.
authors.affiliation: Center for Human Genetics, UZ Gasthuisberg, KU Leuven, Leuven, Belgium.
authors.forename: Thomy J L
authors.initials: TJ
authors.lastname: de Ravel
authors.forename: Indira B
authors.initials: IB
authors.lastname: Taylor
authors.forename: Alex J T
authors.initials: AJ
authors.lastname: Van Oostveldt
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Fryns
authors.forename: Andrew O M
authors.initials: AO
authors.lastname: Wilkie
mesh_terms: D000168:Acrocephalosyndactylia / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D002648:Child; D002675:Child, Preschool; D003394:Craniofacial Dysostosis / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D017386:Sequence Homology, Amino Acid
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2