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[−215G>A; IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site

Previous studies have shown an association between chronic pancreatitis (CP) and mutations, especially the N34S mutation, in the serine protease inhibitor Kazal type 1 ( SPINK1 ) gene.1,2 The human SPINK1 gene is approximately 7.5 kb long and consists of four exons.3 The gene product consists of 79 amino acids, including a 23 amino acid signal peptide. In exon 3, SPINK1 possesses a reactive site that serves as a specific target substrate for trypsin.4 It has been suggested that SPINK1 mutations might result in altered interaction between SPINK1 and trypsin, thus affecting the protease/antiprotease balance within the pancreas.1,2 But the underlying molecular mechanisms remain unclear. Splicing defects are estimated to account for approximately 10–15% of disease causing mutations in humans.5 Changes in the splicing patterns and in levels of normal transcripts lead to phenotypic differences. The prevalence of splicing mutations …