Interaction between a Novel Intronic IVS3+172 Variant and N291 Mutation in PRSS1 Gene Is Associated with Pancreatitis in a Malaysian Chinese Family

Background/Aims: Hereditary pancreatitis (HP) is a very rare form of early-onset chronic pancreatitis, which usually begins in childhood with a variable spectrum of severityof disease. HP is commonly caused by variants/mutations in the PRSSI gene as reported in many studies. Therefore, in this study, we aimed to investigate the possible association of PRSSI gene variants/mutations in a Malaysian Chinesefamily with HP. Methods: Genomic DNA of the 6 family members was extracted, amplified using polymerase chain reaction and the entire PRSSI gene was analyzed via sequencing. Results: PRSSI gene sequencing results revealed two variants/ mutations in this study. The results show that all the subjects (patients) inherited an intronic SNP IVS3+172 variant, together with a p.N291 mutation except for subjects 3 and 4 who are normal. Conclusion: We believe that interaction between the novel IVS3+172 intronic variant and p.N291 mutation in the PRSSI gene is associated with HP in this Malaysian Chinese family.