title: Genotype-phenotype correlation in 9 patients with tropical pancreatitis and identified gene mutations.
abstract: The etiopathogenesis of tropical chronic pancreatitis (TCP) remains unclear. Malnutrition, dietary toxins like cyanogens in cassava and micronutrient deficiency are proposed factors. The description and characterization of genetic factors in TCP has added a new dimension to the understanding of pathogenesis of the disease. However, there is sparse data on the association of TCP with cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. We report 8 patients of TCP with CFTR gene mutations, including one with a novel mutation, and describe the clinical profile of these patients. Further prospective genetic studies on the association of CFTR gene mutations are essential in order to unravel the genetic basis of TCP.
authors.affiliation: Department of Gastroenterology, Amrita Institute of Medical Sciences, Ponekkara, Kerala, India.
authors.forename: G
authors.initials: G
authors.lastname: Rajesh
authors.forename: E M
authors.initials: EM
authors.lastname: Elango
authors.forename: V
authors.initials: V
authors.lastname: Vidya
authors.forename: V
authors.initials: V
authors.lastname: Balakrishnan
mesh_terms: D000293:Adolescent; D000328:Adult; D002114:Calcinosis / Q000097:blood / Q000150:complications / Q000235:genetics*; D002352:Carrier Proteins / Q000097:blood / Q000235:genetics*; D002648:Child; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000097:blood / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies / Q000379:methods*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007194:India; D008297:Male; D009154:Mutation; D050500:Pancreatitis, Chronic / Q000097:blood / Q000209:etiology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D014359:Trypsin Inhibitor, Kazal Pancreatic; D055815:Young Adult
chemical_list: C505032:CFTR protein, human; D002352:Carrier Proteins; C486642:SPINK1 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014359:Trypsin Inhibitor, Kazal Pancreatic; D004247:DNA
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