title: Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3.
abstract: We report on a patient with a severe premature calvarial synostosis and epidermal hyperplasia. The phenotype was consistent with that of a mild presentation of Beare-Stevenson syndrome but molecular analysis of the IgIII-transmembrane linker region and the transmembrane domain of the gene encoding the FGFR2 receptor, revealed wild-type sequence only. Subsequently, molecular analysis of the FGFR3 receptor gene identified a heterozygous P250R missense mutation in both the proposita and her mildly affected father. This communication extends the clinical spectrum of the FGFR3 P250R mutation to encompass epidermal hyperplasia and documents the phenomenon of activated FGFR receptors stimulating common downstream developmental pathways, resulting in overlapping clinical outcomes.
authors: Queensland Clinical Genetics Service, Herston Hospitals Campus, Brisbane, Queensland, Australia. rosciolit@hotmail.com
authors: T
authors: T
authors: Roscioli
authors: S
authors: S
authors: Flanagan
authors: R J
authors: RJ
authors: Mortimore
authors: P
authors: P
authors: Kumar
authors: D
authors: D
authors: Weedon
authors: J
authors: J
authors: Masel
authors: R
authors: R
authors: Lewandowski
authors: V
authors: V
authors: Hyland
authors: I A
authors: IA
authors: Glass
mesh_terms: D019943:Amino Acid Substitution; D003398:Craniosynostoses / Q000235:genetics* / Q000473:pathology; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D006965:Hyperplasia; D007223:Infant; D020125:Mutation, Missense; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D012867:Skin / Q000473:pathology*; D012871:Skin Diseases / Q000235:genetics / Q000473:pathology
chemical_list: D017468:Receptors, Fibroblast Growth Factor; D004247:DNA; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3