Dominantly inherited mutations in the CTRC gene have been reported as pathogenic for a variety of forms of hereditary pancreatitis, an inflammation of the pancreas. Episodes of pancreatitis can lead to permanent tissue damage and loss of pancreatic function.GHR
From 10.1016/j.jpeds.2017.03.063: CTRC mutations have been shown to occur in 0.7% of healthy controls and 2.9%-3.3% of adults with CP.28 We have found that CTRC mutations were significantly more likely to occur in children with EOP (14%), suggesting that abnormalities to this trypsin-degrading pathway may be particularly important to disease pathogenesis among this cohort. .. The mutations reported here are likely disease-causing, given that all but one are projected to lead to amino acid substitutions or frameshift mutations.