caa a22 4500 467907048 CHVBK 20180406152837.0 cr unu---uuuuu 170328e20060401xx s 000 0 eng 10.1007/s00251-005-0073-2 doi (NATIONALLICENCE)springer-10.1007/s00251-005-0073-2 Eight novel CARD15 variants detected by DNA sequence analysis of the CARD15 gene in 111 patients with inflammatory bowel disease [Elektronische Daten] [Fabian Schnitzler, Stephan Brand, Tanja Staudinger, Simone Pfennig, Katrin Hofbauer, Julia Seiderer, Cornelia Tillack, Burkhard Göke, Thomas Ochsenkühn, Peter Lohse] We performed a limited DNA sequence analysis of the CARD15 gene in 89 patients with Crohn's disease (CD), 19 patients with ulcerative colitis (UC), and three patients with indeterminate colitis (IC), who were heterozygous carriers of one of the common CARD15 mutations [c.2104C>T (p.R702W), c.2722G>C (p.G908R), or c.3019_3020insC (p.Leu1007fsX1008)], the c.2462+10A>C variant, or of a new amino acid substitution in the 3′-end of exon 4. CARD15 exons 4, 5, 6, 8, and 11 were amplified by PCR and completely sequenced, thereby theoretically covering 73.9% of the described CARD15 variants and 96.6% of the mutated alleles. Using this approach, eight novel amino acid substitutions [c.1171C>T (p.R391C), c.1387C>G (p.P463A), c.2138G>A (p.R713H), c.2278C>T (p.R760C), c.2368C>T (p.R790W), c.2371C>T (p.R791W), c.2475C>G (p.N825K), and c.2546C>T (p.A849V)] were detected in six CD and two IC patients, and one UC patient. A severe disease phenotype was observed especially in patients who are compound-heterozygous for a common and a novel CARD15 mutation. Springer-Verlag, 2006 CARD15 nationallicence Crohn's disease nationallicence Mutation nationallicence Genotype nationallicence Phenotype nationallicence Schnitzler Fabian Department of Clinical Chemistry-Grosshadern, Ludwig-Maximilians-University Munich, Marchioninistr. 15, 81377, Munich, Germany aut Brand Stephan Department of Internal Medicine II-Grosshadern, University of Munich, Munich, Germany aut Staudinger Tanja Department of Internal Medicine II-Grosshadern, University of Munich, Munich, Germany aut Pfennig Simone Department of Internal Medicine II-Grosshadern, University of Munich, Munich, Germany aut Hofbauer Katrin Department of Internal Medicine II-Grosshadern, University of Munich, Munich, Germany aut Seiderer Julia Department of Internal Medicine II-Grosshadern, University of Munich, Munich, Germany aut Tillack Cornelia Department of Internal Medicine II-Grosshadern, University of Munich, Munich, Germany aut Göke Burkhard Department of Internal Medicine II-Grosshadern, University of Munich, Munich, Germany aut Ochsenkühn Thomas Department of Internal Medicine II-Grosshadern, University of Munich, Munich, Germany aut Lohse Peter Department of Clinical Chemistry-Grosshadern, Ludwig-Maximilians-University Munich, Marchioninistr. 15, 81377, Munich, Germany aut Immunogenetics Springer-Verlag 58/2-3(2006-04-01), 99-106 0093-7711 58:2-3<99 2006 58 251 https://doi.org/10.1007/s00251-005-0073-2 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00251-005-0073-2 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Schnitzler Fabian Department of Clinical Chemistry-Grosshadern, Ludwig-Maximilians-University Munich, Marchioninistr. 15, 81377, Munich, Germany aut NATIONALLICENCE 700 1- Brand Stephan Department of Internal Medicine II-Grosshadern, University of Munich, Munich, Germany aut NATIONALLICENCE 700 1- Staudinger Tanja Department of Internal Medicine II-Grosshadern, University of Munich, Munich, Germany aut NATIONALLICENCE 700 1- Pfennig Simone Department of Internal Medicine II-Grosshadern, University of Munich, Munich, Germany aut NATIONALLICENCE 700 1- Hofbauer Katrin Department of Internal Medicine II-Grosshadern, University of Munich, Munich, Germany aut NATIONALLICENCE 700 1- Seiderer Julia Department of Internal Medicine II-Grosshadern, University of Munich, Munich, Germany aut NATIONALLICENCE 700 1- Tillack Cornelia Department of Internal Medicine II-Grosshadern, University of Munich, Munich, Germany aut NATIONALLICENCE 700 1- Göke Burkhard Department of Internal Medicine II-Grosshadern, University of Munich, Munich, Germany aut NATIONALLICENCE 700 1- Ochsenkühn Thomas Department of Internal Medicine II-Grosshadern, University of Munich, Munich, Germany aut NATIONALLICENCE 700 1- Lohse Peter Department of Clinical Chemistry-Grosshadern, Ludwig-Maximilians-University Munich, Marchioninistr. 15, 81377, Munich, Germany aut NATIONALLICENCE 773 0- Immunogenetics Springer-Verlag 58/2-3(2006-04-01), 99-106 0093-7711 58:2-3<99 2006 58 251 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer