ABCMdb

PMID: 9725922

Cohn JA, Friedman KJ, Noone PG, Knowles MR, Silverman LM, Jowell PS
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.
N Engl J Med. 1998 Sep 3;339(10):653-8., 1998-09-03 [PubMed]

Sentences

No. Mutations Sentence Comment

34 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser549Asn ABCC7 p.Arg560Thr Pancreatograms were assessed for the severity of chronic pancreatitis according to published criteria by a reviewer who was unaware of the patients` histories (Table 1).19 DNA Studies We extracted DNA from blood samples20 and tested for 16 CFTR mutations - ∆F508, W1282X, R117H, 621+1(G→T), R334W, R347P, A455E, ∆I507, 1717¡1(G→A), G542X, S549N, G551D, R553X, R560T, N1303K, and 3849+10Kb(C→T) - using reverse dot blot strips (Roche Molecular Systems, Alameda, Calif.). Login to comment 35 ABCC7 p.Gly85Glu DNA was also tested for the G85E mutation.21 The length of the sequence of thymidines in intron 8 of the CFTR gene was determined with three allele-specific polymerase chain reactions per sample. Login to comment 47 ABCC7 p.Arg117His ABCC7 p.Asn1303Lys Three different mutations were detected: ∆F508 in five patients, R117H in two, and N1303K in one, for a total of eight. Login to comment 58 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Asn1303Lys SEX CFTR GENOTYPE POLYT GENOTYPE AGE AT DIAGNOSIS RESULTS OF PANCREATOGRAPHY† 1 M DF508/R117H 9T/7T 45 Moderately abnormal 2 F DF508/WT 9T/5T 32 Moderately abnormal 3 F DF508/WT 9T/5T 48 Moderately abnormal 4 F DF508/WT 9T/7T 40 Moderately abnormal 5 F DF508/WT 9T/7T 15 Mildly abnormal 6 F R117H/WT 7T/7T 32 Moderately abnormal 7 M N1303K/WT 7T/9T 43 Moderately abnormal 8 M WT/WT 5T/7T 33 Moderately abnormal 9 F WT/WT 5T/7T 29 Normal 10 F WT/WT 5T/7T 12 Moderately abnormal 11 F WT/WT 7T/7T 16 Severely abnormal 12 M WT/WT 7T/7T 22 Mildly abnormal 13 M WT/WT 7T/7T 31 Normal 14 F WT/WT 7T/7T 43 Mildly abnormal 15 F WT/WT 7T/7T 12 Severely abnormal 16 F WT/WT 7T/7T 54 Moderately abnormal 17 F WT/WT 7T/7T 47 Moderately abnormal 18 F WT/WT 7T/7T 65 Mildly abnormal 19 F WT/WT 7T/7T 12 Not done‡ 20 F WT/WT 7T/7T 59 Moderately abnormal 21 F WT/WT 7T/7T 42 Mildly abnormal 22 F WT/WT 7T/7T 33 Severely abnormal 23 F WT/WT 7T/7T 32 Not done 24 F WT/WT 7T/7T 54 Mildly abnormal 25 F WT/WT 7T/7T 54 Severely abnormal 26 F WT/WT 7T/9T 47 Normal 27 F WT/WT 7T/9T 21 Severely abnormal A total of 10 patients had CFTR mutations or the 5T allele or both (Table 1). Login to comment 64 ABCC7 p.Arg117His The genotypes of these three patients (∆F508/wild type, 9T/5T in two and ∆F508/R117H, 9T/7T in one) are the two most common in patients with congenital absence of the vas deferens.10-12,27 These genotypes do not typically cause lung disease. Login to comment 65 ABCC7 p.Arg117His In contrast, lung disease is present in patients with a genotype of ∆F508/R117H, 9T/5T.28 The three patients with abnormalities of both CFTR alleles were further evaluated to determine whether they had unrecognized cystic fibrosis-related lung disease (Table 3). Login to comment 74 ABCC7 p.Arg117His ABCC7 p.Asn1303Lys The first assumption is based on data for U.S. whites,6 and the other three assumptions are based on data for whites tested at our medical center.22,25 †Three mutations causing cystic fibrosis were identified: ∆F508 in five patients, R117H in two, and N1303K in one. Login to comment 76 ABCC7 p.Arg117His §Two patients had a genotype of ∆F508/wild type, 9T/5T, and one patient had a genotype of ∆F508/R117H, 9T/7T. Login to comment 99 ABCC7 p.Arg117His GENOTYPE SWEAT CHLORIDE NASAL POTENTIAL DIFFERENCE FEV1 OTHER FINDINGS mmol/liter mV % of predicted 1 ∆F508/R117H, 9T/7T 28, 30 ¡24 86 Congenital absence of the vas deferens 2 ∆F508/WT, 9T/5T 44, 39 ¡23 106 Smoker (1 pack/day) 3 ∆F508/WT, 9T/5T 56, 62 ¡21 58 Smoker (2 packs/day) data. Login to comment