ABCMdb

PMID: 15775704

Lamprecht G, Mau UA, Kortum C, Raible A, Stern M, Riess O, Gregor M
Relapsing pancreatitis due to a novel compound heterozygosity in the CFTR gene involving the second most common mutation in central and eastern Europe [CFTRdele2,3(21 kb)].
Pancreatology. 2005;5(1):92-6; discussion 95-6. Epub 2005 Mar 16., [PubMed]

Sentences

No. Mutations Sentence Comment

7 ABCC7 p.Arg117His Here we describe a case of relapsing pancreatitis in a female patient due to compound heterozygosity Key Words Idiopathic pancreatitis ؒ CFTR compound heterozygosity ؒ CFTRdele2,3(21 kb) ؒ R117H ؒ Cationic pancreatic trypsinogen ؒ PRSS1 ؒ Pancreatic secretory trypsinogen inhibitor ؒ SPINK1 Abstract A 43-year-old otherwise healthy female patient presented with mild pancreatitis. Login to comment 9 ABCC7 p.Arg117His Genotyping of the patient demonstrated CFTR compound heterozygosity CFTRdele2,3(21 kb) and R117H and wild type alleles of the poly-T-tract in intron 8 (7T/7T). Login to comment 13 ABCC7 p.Arg117His Copyright (c) 2005 S. Karger AG, Basel and IAP Published online: March 16, 2005 Georg Lamprecht 1st Medical Department, University of Tübingen Otfried-Müller-Strasse 10, DE-72076 Tübingen (Germany) Tel. +49 7071 2983187, Fax +49 7071 295221 E-Mail hans-georg.lamprecht@uni-tuebingen.de (c) 2005 S. Karger AG, Basel and IAP 1424-3903/05/0051-0092$22.00/0 Accessible online at: www.karger.com/pan Fax +41 61 306 12 34 E-Mail karger@karger.ch www.karger.com 93 for CFTR mutations (CFTRdele2,3(21 kb) and R117H), which has not been implicated with pancreatic disease previously. Login to comment 32 ABCC7 p.Arg117His Analysis of the CFTR gene (addressing 18 CFTR mutations which comprise 84% of all CFTR mutations in the German population) showed compound heterozygosity for the mutations CFTRdele2,3(21 kb) and R117H. Login to comment 66 ABCC7 p.Arg117His Because the patient was supposed to be a carrier of a severe CFTR mutation, genotyping for CFTR mutations was performed and revealed the deletion of a 21-kb fragment spanning exons 2 and 3 and part of the adjacent introns [CFTRdele2,3(21 kb)] as well as the point mutation R117H. Login to comment 73 ABCC7 p.Arg117His Depending on the splicing efficiency of exon 9, which is determined by the length of the poly-T-tract in intron 8, the R117H mutation can result in mildly or severely reduced function of the transcribed CFTR protein [12]. Login to comment 74 ABCC7 p.Arg117His Because the splicing efficiency of exon 9 appeared normal (wild-type IVS8-7T alleles), the R117H mutation in this patient has to be judged as 'mild`. Login to comment 82 ABCC7 p.Arg117His The R117H mutation also has a fairly high allele frequency of 0.3% in northern Europe. Login to comment