Variant Synonymizer: Platform to identify mutations defined in different ways is available now!
Over 2,000 gene–disease validation summaries are now available—no login required!
CLDN2 has been proposed as a risk gene for hereditary chronic pancreatitis based on a multi-patient cohort study, but specific proband counts, familial segregation, and variant details were not reported (PMID:34798985). Hereditary chronic pancreatitis exhibits an autosomal dominant inheritance pattern with incomplete penetrance and presents with recurrent abdominal pain (HP:0002027), exocrine pancreatic insufficiency (HP:0001736), endocrine insufficiency manifesting as diabetes mellitus (HP:0011922), and elevated risk of pancreatic neoplasms (HP:0100023). The association of CLDN2 falls within the pancreatic ductal secretion mechanism alongside CTRC, CPA1, and CEL, yet no segregation or functional assays have confirmed a causal role. Additional case-level genotype–phenotype correlations and experimental validation are required to establish the pathogenicity of CLDN2 variants.
Key take-home: CLDN2 remains a candidate gene for hereditary chronic pancreatitis with insufficient genetic and functional evidence to guide clinical decision-making.
Gene–Disease AssociationLimitedAssociation based solely on a single cohort study with no proband counts or segregation data ([PMID:34798985]). Genetic EvidenceLimitedCohort association without specific variant or family data. Functional EvidenceLimitedNo functional studies evaluating the impact of CLDN2 variants in hereditary chronic pancreatitis. |