title: 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)].
abstract: A 43-year-old otherwise healthy female patient presented with mild pancreatitis. Her family history revealed that her only son had cystic fibrosis. 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). No mutations were detected in the cationic pancreatic trypsinogen (PRSS1) and the pancreatic secretory trypsinogen inhibitor (SPINK1) genes. CFTRdele2,3(21 kb) has only been described in 2000 and is the second most frequent severe CFTR mutation after DeltaF508 in central and eastern Europe. This haplotype should be included in the genetic panel when evaluating patients of central or eastern European genetic background for possible CFTR related pancreatitis.
authors.affiliation: 1st Medical Department, University of Tübingen, Tübingen, DE-72076, Germany. hans-georg.lamprecht@uni-tuebingen.de
authors.forename: Georg
authors.initials: G
authors.lastname: Lamprecht
authors.forename: Ulrike A
authors.initials: UA
authors.lastname: Mau
authors.forename: Christian
authors.initials: C
authors.lastname: Kortum
authors.forename: Armin
authors.initials: A
authors.lastname: Raible
authors.forename: Martin
authors.initials: M
authors.lastname: Stern
authors.forename: Olaf
authors.initials: O
authors.lastname: Riess
authors.forename: Michael
authors.initials: M
authors.lastname: Gregor
mesh_terms: D000328:Adult; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D010195:Pancreatitis / Q000235:genetics* / Q000503:physiopathology*; D012008:Recurrence
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator