ABCMdb

PMID: 14526128

Bernardino AL, Guarita DR, Mott CB, Pedroso MR, Machado MC, Laudanna AA, Tani CM, Almeida FL, Zatz M
CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients.
JOP. 2003 Sep;4(5):169-77., [PubMed]

Sentences

No. Mutations Sentence Comment

7 ABCC7 p.Arg170Cys Interestingly, the only clinical symptom in a male patient in the alcoholic group, who was a compound heterozygote (∆F508/R170C) for two CFTR mutations, was pancreatitis without infertility or pulmonary involvement. Login to comment 68 ABCC7 p.Pro205Ser ABCC7 p.Leu206Trp ABCC7 p.Arg31Cys ABCC7 p.Arg851Leu ABCC7 p.Arg170Cys ABCC7 p.Val920Met A total of 13 changes were found: 7 in the CFTR gene (∆F508/R851L, ∆F508/R170C, ∆F508/L206W, 2 N/∆F508, N/P205S, N/R31C and N/V920M), 2 in the PRSS1 gene (E79K and N246N) and 4 in the SPINK1 gene (-253T>C, -164G>C, -7T>G, c75C>T) (Table 1). Login to comment 69 ABCC7 p.Pro205Ser ABCC7 p.Leu206Trp ABCC7 p.Arg31Cys ABCC7 p.Arg851Leu ABCC7 p.Arg170Cys ABCC7 p.Val920Met The CFTR Gene Molecular analysis showed that 8 patients (9.8%) had mutations in the CFTR gene: 3 were compound heterozygotes (∆F508/R851L, ∆F508/R170C and ∆F508/L206W) and 5 had mutations on just one allele (2 N/∆F508, N/P205S, N/R31C and N/V920M). Login to comment 70 ABCC7 p.Pro205Ser ABCC7 p.Leu206Trp ABCC7 p.Arg851Leu ABCC7 p.Val920Met Among the 16 patients with idiopathic chronic pancreatitis, 5 (31.3%) had mutations in the CFTR gene (∆F508/R851L, ∆F508/L206W, N/∆F508, N/P205S and N/V920M). Login to comment 71 ABCC7 p.Pro205Ser ABCC7 p.Leu206Trp Two of these patients (∆F508/L206W and N/P205S), were found to have congenital absence of the vas deferens in addition to chronic pancreatitis. Login to comment 72 ABCC7 p.Arg31Cys ABCC7 p.Arg851Leu ABCC7 p.Arg170Cys ABCC7 p.Val920Met One (∆F508/R851L) referred only bronchitis in childhood and the last two (N/∆F508 and N/V920M) had no other additional signs. Three of the 64 patients (4.7%) with alcohol-related chronic pancreatitis but with no pulmonary problems also had CFTR mutations: N/∆F508, N/R31C and compound heterozygote ∆F508/R170C. None of these 3 patients reported azoospermia. Login to comment 78 ABCC7 p.Pro205Ser ABCC7 p.Leu206Trp ABCC7 p.Arg31Cys ABCC7 p.Arg851Leu ABCC7 p.Arg170Cys ABCC7 p.Val920Met Gene Localization Mutation Polymorphism Frequency in patients' chromosomes Frequency in controls' chromosomes P value Exon 2 R31C 1/164 (0.6%) - - Exon 5 R170C 1/164 (0.6%) - - P205S 1/164 (0.6%) - -Exon 6 L206W 1/164 (0.6%) - - Exon 10 ∆F508 5/164 (3.0%) - - Exon 14a R851L 1/164 (0.6%) - - CFTR Exon 15 V920M 1/164 (0.6%) - - Exon 3 E79K 1/164 (0.6%) 1/300 (0.3%) 1.000a PRSS1 Exon 5 N246N 47/164 (28.7%) 85/300 (28.3%) 1.000b -253T>C 20/164 (12.2%) 20/400 (5.0%) 0.004b Promoter -164G>C 4/164 (2.4%) 13/400 (3.3%) 0.788a Exon 1 -7T>G 5/164 (3.0%) 8/300 (2.7%) 0.777a SPINK1 Exon 2 c75C>T 1/164 (0.6%) 3/300 (1.0%) 1.000a a Fisher's exact test b Yates' corrected chi-squared test alcohol-related chronic pancreatitis, but with no family history. Login to comment 94 ABCC7 p.Pro205Ser ABCC7 p.Leu206Trp ABCC7 p.Arg31Cys ABCC7 p.Arg851Leu ABCC7 p.Arg170Cys ABCC7 p.Val920Met Molecular analysis showed that 9.8% of the total group of patients had mutations in the CFTR gene: 3 were compound heterozygotes (∆F508/R851L, ∆F508/R170C and ∆F508/L206W) and 5 had mutations on just one allele (2 N/∆F508, N/P205S, N/R31C and N/V920M). Login to comment 96 ABCC7 p.Pro205Ser ABCC7 p.Leu206Trp ABCC7 p.Arg851Leu ABCC7 p.Val920Met Among the 16 patients with idiopathic chronic pancreatitis, 5 had mutations in the CFTR gene (∆F508/R851L, ∆F508/L206W, N/∆F508, N/P205S and N/V920M). Login to comment 97 ABCC7 p.Pro205Ser ABCC7 p.Leu206Trp Two of these patients (∆F508/L206W and N/P205S), were found to have congenital absence of the vas deferens, a condition associated with cystic fibrosis mutations in addition to chronic pancreatitis. Login to comment 98 ABCC7 p.Arg31Cys ABCC7 p.Arg851Leu ABCC7 p.Arg170Cys ABCC7 p.Val920Met One (∆F508/R851L) referred only bronchitis in childhood and the last two (N/∆F508 and N/V920M) had no other additional signs. Three (4.7%) of the 64 patients with alcohol-related chronic pancreatitis but with no pulmonary problems also had CFTR mutations: N/∆F508, N/R31C and compound heterozygote ∆F508/R170C. None of these 3 patients reported azoospermia. Login to comment 99 ABCC7 p.Arg170Cys This observation caught our attention, in particular, the last patient who was a compound heterozygote (∆F508/R170C) and in whom the only clinical symptom was pancreatitis. Login to comment