title: Analysis of the alternative splicing of an FGFR2 transcript due to a novel 5' splice site mutation (1084+1G>A): case report.
abstract: Craniosynostosis is characterized by premature fusion of one or more cranial sutures and is associated with mutations in fibroblast growth factor receptor (FGFR) genes. Here we describe a novel mutation (1084+1G>A) in the FGFR2 gene of a patient with isolated bicoronal synostosis. We detected two isoforms that result from the mutation and are characterized, respectively, by exon skipping and the use of a cryptic splice site. Interestingly, the alternatively spliced forms of FGFR2 appear to induce fusion of the cranial sutures suggesting that the mutation acts via a gain-of-function mechanism rather than a loss of protein functionality.
authors.affiliation: Department of Pathology, L235 Stanford University Medical Center, 300 Pasteur Drive, Stanford, CA 94305, USA.
authors.forename: Ilana
authors.initials: I
authors.lastname: Traynis
authors.forename: Jonathan A
authors.initials: JA
authors.lastname: Bernstein
authors.forename: Phyllis
authors.initials: P
authors.lastname: Gardner
authors.forename: Iris
authors.initials: I
authors.lastname: Schrijver
mesh_terms: D017398:Alternative Splicing; D002648:Child; D003398:Craniosynostoses / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D021621:Imaging, Three-Dimensional; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D022821:RNA Splice Sites; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D014057:Tomography, X-Ray Computed
chemical_list: D022821:RNA Splice Sites; D051497:Receptor, Fibroblast Growth Factor, Type 2