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

作者：Traynis Ilana; Bernstein Jonathan A; Gardner Phyllis; Schrijver Iris^*

来源：Cleft Palate-Craniofacial Journal, 2012, 49(1): 104-108.

DOI：10.1597/10-217

• alternative splicing
• craniosynostosis
• FGFR2
• gain-of-function

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.

• 出版日期2012-1