ABCMdb

PMID: 17943404

Zoller H, Egg M, Graziadei I, Creus M, Janecke AR, Loffler-Ragg J, Vogel W
CFTR gene mutations in pancreatitis: Frequency and clinical manifestations in an Austrian patient cohort.
Wien Klin Wochenschr. 2007;119(17-18):527-33., [PubMed]

Sentences

No. Mutations Sentence Comment

67 ABCC7 p.Arg117His ABCC7 p.Arg1162* Out of the 29 genetic variants analysed, four distinct genetic variants were detected in pancreatitis patients (∆F508, R1162X, R117H and one intronic variant: 5T allele of the polythymidine tract in intron 8). Login to comment 69 ABCC7 p.Arg1162* The mutations detected included the ∆F505 and the R1162X mutation (Table 2), which are the two most common mutations in patients with cystic fibrosis in Western Austria (Tyrol), occurring with a frequency of 74.6% and 8.7%, respectively [22]. Login to comment 75 ABCC7 p.Arg117His ABCC7 p.Arg1162* The mutations detected are listed in www.elucigene.com/pdfs/cfcf029_isgb002.pdf Mutation Number of pancreatitis patients with mutations (n) Frequency of mutation in pancreatitis cohort (%) Frequency of mutation in carrier group (%) Frequency in 76 healthy controls Frequency of mutation in Tyrolean CF patients [22] (%) Intron 8 Poly T (5T) homozygous 1 0.8 6.7 0 0 Intron 8 Poly T (5T) heterozygous 8 6.0 53.3 3,6 0 ∆F508 heterozygous 3 2.3 20.0 - 74.6 R1162X heterozygous 2 1.5 13.3 - 8.7 R117H heterozygous 1 0.8 6.7 - 0 39 patients with calcifications, 13 had mutations in the CFTR gene (33.3%), which is significantly more than the proportion of pancreatitis patients without CT evidence for parenchymal calcification but mutations in the CFTR gene (3/68, 4.4%, χ2 = 16.2, p < 0.01). Login to comment