title: Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.
abstract: We report on a patient with the skeletal findings of Jackson-Weiss syndrome, who manifests only mild craniofacial anomalies. Molecular analysis of her fibroblast growth factor receptor 1 gene (FGFR1) identified a heterozygous P252R missense mutation, previously only reported with FGFR1-Pfeiffer syndrome like manifestations. Mutations in the immunoglobulin-like, II-III (IgII-III) linker region of FGFR1 and FGFR3 molecules may present as a skeletal dysplasia affecting the appendicular skeleton including, brachydactyly, short broad middle phalanges, phalangeal epiphyseal coning and broad halluces. This communication is a further example of the phenomenon of an activated FGFR molecule resulting in overlapping manifestations in FGFR syndromes.
authors.affiliation: Queensland Clinical Genetics Service, Herston Hospitals Campus, Brisbane, Queensland, Australia.
authors.forename: T
authors.initials: T
authors.lastname: Roscioli
authors.forename: S
authors.initials: S
authors.lastname: Flanagan
authors.forename: P
authors.initials: P
authors.lastname: Kumar
authors.forename: J
authors.initials: J
authors.lastname: Masel
authors.forename: M
authors.initials: M
authors.lastname: Gattas
authors.forename: V J
authors.initials: VJ
authors.lastname: Hyland
authors.forename: I A
authors.initials: IA
authors.lastname: Glass
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D017931:DNA Primers; D019066:Facies; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051496:Receptor, Fibroblast Growth Factor, Type 1; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013577:Syndrome
chemical_list: D017931:DNA Primers; D017468:Receptors, Fibroblast Growth Factor; C496348:FGFR1 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051496:Receptor, Fibroblast Growth Factor, Type 1