Mutations of the Cystic Fibrosis Gene in Patients with Chronic Pancreatitis

Abstract

Mutations of the CFTR gene and the 5T genotype are associated with chronic pancreatitis.

Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis

“…Mutations of CFTR (including mutations in the noncoding sequence of thymidines in intron 8) have been detected in patients with ACP, but their prevalence is similar to that expected in the general population. 6,15,17,29 Finally, the most common mutation (N34S) in SPINK1 has been found more frequently associated in patients with ACP than in healthy controls or in patients with alcoholism but without CP. 18,30 However, this finding has not been confirmed in any another study.…”

“…Some evidence exists that at least in a small proportion of patients with ICP, a mutation of one or both alleles of either the cystic fibrosis transmembrane conductance regulator (CFTR; OMIM: 602421) gene 6,7 or the serine protease inhibitor, Kazal type 1 (SPINK1; OMIM: 167790) gene 8,9 can be identified. Severe mutations in both alleles of the CFTR results in the commonly recognized cystic fibrosis (CF) clinical features of abnormal sweat chloride concentrations, pancreatic insufficiency, and progressive pulmonary disease.…”

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

“…More than 1500 sequence variations have been reported in the CFTR gene, often with geographic or ethnic variations in frequency 6 -8 and which are found in both CF and related phenotypes, named CFTR-related disorders (CFTR-RD). These are clinical entities associated with CFTR dysfunction but where the diagnosis of CF cannot be unambiguously established; 1 for example, congenital bilateral absence of vas deferens (CBAVD) 9 -13 disseminated bronchiectasis, 14,15 chronic pancreatitis, 16,17 or chronic rhinosinusitis. 18,19 CFTR gene analyses are performed in specialist clinical molecular genetics laboratories closely associated with clinical genetic services or research facilities, and also in private laboratories; lists of European laboratories offering CFTR genetic testing are available at www.orpha.net or at www.eurogentest.org/web/qa/basic.xhtml.…”

F508 amino acid deletion mutation of CFTR gene in Korean lung cancer patients

“…This disease invades a number of organs, including the lung, pancreas, and sweat glands (Boat et al, 1989), and is characterized by recurrent pulmonary infections, impaired pulmonary function, and disseminated bronchiectasis. Transmembrane conductance regulator (CFTR) gene identified at chromosome 7 (Kerem et al, 1989;Riordan et al, 1989;Rommens et al, 1989) is known to be responsible for cystic fibrosis, and a variety of mutations of CFTR gene have been identified (Xu and Gruenert, 1996;Sharer et al, 1998;Cohn et al, 1998).…”

“…Most frequent mutation in CFTR gene is 508th amino acid deletion and found in many diseases, including chronic pancreatitis (Cohn et al, 1998;Sharer et al, 1998), disseminated bronchiectasis (Pignatti et al, 1995), bronchopulmonary aspergillosis (Weiner et al, 1996), chronic bronchitis, and pulmonary emphysema (Bombieri et al, 1998), etc. However, cystic fibrosis is not a common disease in Asian and only one case has been reported in a Korean male infant with recurrent bronchitis.…”