Footnotes

• Contributors AB, J-MC and CF designed the overall project. AB performed in vitro experiments. MS performed mouse experiments. EM performed resequencing. EG analysed genotype data. AB, MS and J-MC drafted the manuscript. All authors revised and approved the final manuscript.

• Funding This work was supported by grants from the Conseil Régional de Bretagne, the Association des Pancréatites Chroniques Héréditaires, the Association de Transfusion Sanguine et de Biogénétique Gaetan Saleun and the Institut National de la Santé et de la Recherche Médicale (INSERM), France.

• Competing interests None.

• Patient consent Obtained.

• Ethics approval Ethical Committee of the University Brest; Animal Care and Experimentation Committee of Kagoshima University.

• Provenance and peer review Not commissioned; internally peer reviewed.