Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers

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Abstract
The autosomal recessive disease cystic fibrosis (CF, MIM 219700) is caused by a wide spectrum of mutations in the gene encoding for the CF transmembrane conductance regulator (CFTR, MIM 602421) protein, a cAMP regulated chloride (Cl−) channel located in the apical membrane of secretory epithelial cells. About 20% of the more than 1000 CFTR mutations reported so far are splicing mutations and generally they represent 15% of all point mutations.1 Although it is generally agreed that mutations at the conserved splice dinucleotide consensus sites GU (donor) and AG (acceptor) disrupt function of the resulting protein product, it is important to know exactly which alternatively spliced mRNA molecules will result in such situations. ### Key points