Eight novel CARD15 variants detected by DNA sequence analysis of the CARD15 gene in 111 patients with inflammatory bowel disease

Publication

Eight novel CARD15 variants detected by DNA sequence analysis of the CARD15 gene in 111 patients with inflammatory bowel disease

Journal Paper/Review - Feb 17, 2006

Schnitzler Fabian, Ochsenkühn Thomas, Göke Burkhard, Tillack Cornelia, Seiderer Julia, Hofbauer Katrin, Pfennig Simone, Staudinger Tanja, Brand Stephan, Lohse Peter

Citation

Schnitzler F, Ochsenkühn T, Göke B, Tillack C, Seiderer J, Hofbauer K, Pfennig S, Staudinger T, Brand S, Lohse P. Eight novel CARD15 variants detected by DNA sequence analysis of the CARD15 gene in 111 patients with inflammatory bowel disease. Immunogenetics 2006; 58:99-106.

Type

Journal Paper/Review (English)

Journal

Immunogenetics 2006; 58

Publication Date

Feb 17, 2006

Issn Print

0093-7711

Pages

99-106

Brief description/objective

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.