ABCMdb

PMID: 15784035

Gallegos-Orozco JF, E Yurk C, Wang N, Rakela J, Charlton MR, Cutting GR, Balan V
Lack of association of common cystic fibrosis transmembrane conductance regulator gene mutations with primary sclerosing cholangitis.
Am J Gastroenterol. 2005 Apr;100(4):874-8., [PubMed]

Sentences

No. Mutations Sentence Comment

8 ABCC7 p.Trp1282* Two controls (3.3%) carried a single CF mutation ( F508 in one primary biliary cirrhosis patient; W1282X in one hepatitis C patient). Login to comment 55 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.Arg1162* ABCC7 p.Arg560Thr ABCC7 p.Phe508Cys ABCC7 p.Ile506Val ABCC7 p.Ile507Val CFTR Mutations and Associated Phenotype Classic Nonclassic Cystic Fibrosis Cystic Fibrosis Variant Normal 621 + 1G→T R117H G85E* 7T 711 + 1G→T R334W 5T† 9T 1078delT R347P M470V‡ F508C I507 A455E I507V F508 2789 + 5G → A I506V 1717 - 1G→A 3849 + 10kbC→T G542X G551D R553X R560T R1162X 3659delC W1282X N1303K * Classic cystic fibrosis and nonclassic cystic fibrosis. Login to comment 74 ABCC7 p.Trp1282* Analysis of the individual groups identified one patient (5%) in the PBC group with the F508 mutation, one patient (5%) in the hepatitis C group with the W1282X mutation, and no patient in the autoimmune hepatitis group with any CF mutation. Login to comment 91 ABCC7 p.Trp1282* CFTR Mutations in Patients with PSC and in Control Patients PSC Controls (n = 59) (n = 60) P-Value CF Mutations F508/+* 1 1 0.74 W1282X/+* 0 1 0.52 CFTR variants 5T/7T 2 6 0.27 Codon 470 Genotypes M/M 10 10 0.9 M/V 28 26 0.67 V/V 21 24 0.59 CF = cystic fibrosis; CFTR = cystic fibrosis transmembrane conductance regulator; PSC = primary sclerosing cholangitis. Login to comment 96 ABCC7 p.Gly551Asp ABCC7 p.Arg117His McGill and colleagues found common mutations G551D and R117H in one copy of CFTR in 2 (10.5%) of 19 PSC patients, a frequency not significantly different from that of carriers of CF mutations in the general population (21). Login to comment 99 ABCC7 p.Asp1270Asn ABCC7 p.Ser1235Arg ABCC7 p.Leu997Phe Three of the mutations identified in the PSC patients were previously reported to cause mild disease in CF patients (L997F, S1235R, and D1270N). Login to comment 100 ABCC7 p.Asn782Lys Girodon et al. (19) also described a new missense mutation, N782K, of unknown effect. Login to comment 103 ABCC7 p.Ile1139Val Of the mutations detected in PSC patients, three of the seven are associated with mild CF phenotypes (3849 + 10kbC→T, 2752-26A→G, I1139V). Login to comment 104 ABCC7 p.Ser686Tyr ABCC7 p.Ile1366Phe The remaining four mutations included two novel variants S686Y and I1366F of unknown functional and phenotypic effect, a Table 4. Login to comment 106 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Asp1270Asn ABCC7 p.Arg75Gln ABCC7 p.Ser1235Arg ABCC7 p.Leu997Phe ABCC7 p.Ile1139Val ABCC7 p.Ser686Tyr ABCC7 p.Ile1366Phe ABCC7 p.Asn782Lys of Classic CF Nonclassic CFTR Mutations Reference PSC Patients Mutations CF Mutations IVS8-5T of Unknown Effect McGill (1996) (21) 19 1 (G551D) 1 (R117H) NA NA Girodon (2002)(19) 29 0 3 (L997F, S1235R, D1270N) 2 1 (N782K) Sheth (2003)* (18) 19 0 3 (2752-26A→G, 3849 + 10kbC→T, I1139V) 1 3 (S686Y, I1366F, R75Q) Gallegos-Orozco (2004) 59 1 ( F508) 0 2 NA Total, no. Login to comment 109 ABCC7 p.Arg75Gln third (R75Q) of questionable effect, and a fourth (IVS8-5T) that occurred at the same frequency as in the general population. Login to comment