Jon Bernstein

Publication Details

• Analysis of the Alternative Splicing of an FGFR2 Transcript Due to a Novel 5' Splice Site Mutation (1084+1G>A): Case Report.

  Traynis I, Bernstein JA, Gardner P, Schrijver I. Cleft Palate Craniofac J. 2012; 49 (1): 104-8

  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.

  PubMedID: 21524234