CFTR mutations enhance susceptibility for idiopathic chronic pancreatitis (ICP) and congenital bilateral absence of the vas deferens (CBAVD); however, it is unknown why CFTR heterozygotes are at increased disease risk. We recently showed that common CFTR variants are associated with aberrantly splic
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens
✍ Scribed by Bernhard Steiner; Jonas Rosendahl; Heiko Witt; Niels Teich; Volker Keim; Hans-Ulrich Schulz; Roland Pfützer; Matthias Löhr; Thomas M. Gress; Renate Nickel; Olfert Landt; Monika Koudova; Milan Macek Jr; Antoni Farre; Teresa Casals; Marie-Claire Desax; Sabina Gallati; Macarena Gomez-Lira; Marie Pierre Audrezet; Claude Férec; Marie des Georges; Mireille Claustres; Kaspar Truninger
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 85 KB
- Volume
- 33
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
✦ Synopsis
Bernhard Steiner, ({ }^{1 \dagger}) Jonas Rosendahl, ({ }^{2 \dagger}) Heiko Witt, ({ }_{3}^{3}) Niels Teich, ({ }^{4}) Volker Keim, ({ }^{2}) Hans-Ulrich Schulz, ({ }^{5}) Roland Pfützer, ({ }^{6}) Matthias Löhr, ({ }^{7}) Thomas M. Gress, ({ }^{8}) Renate Nickel, ({ }^{9}) Olfert Landt, ({ }^{10}) Monika Koudova, ({ }^{11}) Milan Macek Jr, ({ }^{11}) Antoni Farre, ({ }^{12}) Teresa Casals, ({ }^{13}) Marie-Claire Desax, ({ }^{14}) Sabina Gallati, ({ }^{15}) Macarena Gomez-Lira, ({ }^{16}) Marie Pierre Audrezet, ({ }^{17}) Claude Férec, ({ }^{17}) Marie des Georges, ({ }^{18}) Mireille Claustres, ({ }^{18}) and Kaspar Truninger ({ }^{19 *})
({ }^{1}) Institute of Medical Genetics, University of Zurich, Schwerzenbach and Children's Hospital, Cantonal Hospital Lucerne, Lucerne, Switzerland; ({ }^{2}) Department of Gastroenterology and Hepatology, University of Leipzig, Leipzig, Germany; ({ }^{3}) Department of Gastroenterology and Hepatology, Charité, Campus Virchow-Klinikum, Berlin, Germany; ({ }^{4}) Internistische Gemeinschaftspraxis für Verdauungs- und Stoffwechselerkrankungen, Leipzig, Germany; ({ }^{5}) Department of Surgery, Otto-von-Guericke University, Magdeburg, Germany; ({ }^{6}) Division of Internal Medicine, Evangelisches Krankenhaus Kalk GmbH, Köln, Germany; 7 Department of Clinical Science, Intervention and Technology, Karolinska Institute, Stockholm, Sweden; ({ }^{8}) Department of Gastroenterology, Endocrinology and Metabolisms, University of Marburg, Marburg, Germany; ({ }^{9}) Department of Pediatrics, Charité, Berlin, Germany; ({ }^{10}) TIB MOLBIOL GmbH, Berlin, Germany; "Department of Biology and Medical Genetics, Cystic Fibrosis Center, University Hospital Motol and Second Faculty of Medicine, Prague, Czech Republic; ({ }^{12}) Department of Gastroenterology, Hospital de la Santa Creu i S. Pau., Barcelona, Spain; ({ }^{13}) Medical and Molecular Genetics Center, IDIBELL, Barcelona, Spain; ({ }^{14}) Department of Internal Medicine, Cantonal Hospital Olten, Olten, Switzerland; ({ }^{15}) Department of Pediatrics, Division of Human Genetics, Inselspital, University of Bern, Bern, Switzerland; ({ }^{16}) Department of Life and Reproduction Sciences, Section Biology and Genetics, University of Verona, Italy; ({ }^{17}) Institute National de la Santé et de la Recherche Médicale (INSERM), Université de Bretagne Occidentale, Brest, France; ({ }^{18}) CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier, France; INSERM, U827, Montpellier, France; Université Montpellier 1, UFR Médecine, Montpellier, France; ({ }^{19}) Clinic of Internal Medicine, SRO Hospital Langenthal, Langenthal, Switzerland
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## Communicated by Garry Cutting The different alleles at the (TG)m(T)n polymorphic loci at the 3 0 end of the human CFTR intron 8 determine the efficiency by which exon 9 is spliced. We identified a novel TG12T3 allele in a congenital bilateral absence of vas deferens (CBAVD) patient who carries