Impact of known SPINK1 missense variants on pre-mRNA splicing and/or mRNA stability in a full-length gene assay

Objectives Any variants occurring within coding sequences of genes may affect pre-mRNA splicing and/or mRNA stability; and up to 10% of known disease-associated missense variants were reported to alter pre-mRNA splicing. SPINK1 is one of the most studied chronic pancreatitis-predisposing genes, and a large number of variants including missense ones have been reported. Here we describe the effects of all previously reported SPINK1 missense variants (n=24) on pre-mRNA splicing and/or mRNA stability that were evaluated in a full-length gene assay.
Source: Pancreatology - Category: Gastroenterology Authors: Tags: 4. Genetics in pancreatic diseases Source Type: research