Footnotes

• W-BZ and EM contributed equally.

• Contributors ZSL, ZL, CF and JMC designed and directed the study. WBZ and AB performed in vitro functional analysis. EM performed targeted sequencing. All authors interpreted the data, revised the text and approved the final manuscript. JMC wrote the manuscript with contributions from WBZ and EM.

• Funding WBZ is a joint PhD student between Changhai Hospital and INSERM U1078 and received a 1-year scholarship from the China Scholarship Council (No. 201403170271). Support for this study came from the National Natural Science Foundation of China (Grant Nos 81470884, 81422010 (ZL)), the Shanghai Rising-Star Program (Grant No. 13QA1404600 (ZL)), 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).

• Competing interests None declared.

• Patient consent Obtained.

• Ethics approval Ethical Committee of the University of Brest.

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