Analysis of the Alternative Splicing of an FGFR2 Transcript Due to a Novel 5′ Splice Site Mutation (1084++1G>A): Case Report.
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 i...
| Publicado en: | Cleft Palate Craniofacial Journal Vol. 49; no. 1; pp. 104 - 109 |
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| Autores principales: | , , , |
| Formato: | case study diagnostic images tables/charts Journal Article |
| Publicado: |
Sage Publications Inc.
Jan2012
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=73568900&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 73568900 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 10556656 DF1 jtl: Cleft Palate Craniofacial Journal issn: 10556656 maglogo: Y pubinfo: dt: Jan2012 vid: 49 iid: 1 pid: 344 pub: Sage Publications Inc. place: Thousand Oaks, California artinfo: ui: 73568900 104538549 104538549 10.1597/10-217 73568900 ppf: 104 ppct: 5 formats: tig: atl: Analysis of the Alternative Splicing of an FGFR2 Transcript Due to a Novel 5′ Splice Site Mutation (1084++1G>A): Case Report. aug: au: Traynis, Ilana Bernstein, Jonathan A Gardner, Phyllis Schrijver, Iris sug: subj: Craniosynostoses Mutation Male Child Tomography Polymerase Chain Reaction DNA Analysis Child: 6-12 years Male ab: 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. pubtype: Academic Journal doctype: case study diagnostic images tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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