Eight novel CARD15 variants detected by DNA sequence analysis of the CARD15 gene in 111 patients with inflammatory bowel disease
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...
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| Veröffentlicht in: | Immunogenetics (New York) 2006-04, Vol.58 (2-3), p.99-106 |
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| creator | Schnitzler, Fabian Brand, Stephan Staudinger, Tanja Pfennig, Simone Hofbauer, Katrin Seiderer, Julia Tillack, Cornelia Göke, Burkhard Ochsenkühn, Thomas Lohse, Peter |
| description | 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. |
| doi_str_mv | 10.1007/s00251-005-0073-2 |
| format | Article |
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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.</description><identifier>ISSN: 0093-7711</identifier><identifier>EISSN: 1432-1211</identifier><identifier>DOI: 10.1007/s00251-005-0073-2</identifier><identifier>PMID: 16485124</identifier><language>eng</language><publisher>United States: Springer Nature B.V</publisher><subject>Adolescent ; Adult ; Amino Acid Substitution - genetics ; Amino acids ; Deoxyribonucleic acid ; DNA ; DNA Mutational Analysis ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Inflammatory bowel disease ; Inflammatory Bowel Diseases - genetics ; Intracellular Signaling Peptides and Proteins - genetics ; Male ; Mutation ; Nod2 Signaling Adaptor Protein ; Phenotype ; Polymorphism, Genetic</subject><ispartof>Immunogenetics (New York), 2006-04, Vol.58 (2-3), p.99-106</ispartof><rights>Springer-Verlag 2006</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c357t-1507c34acc44c7cef656a7a03ad79388bb5db7a9a7b7953d151226d2c9f010b83</citedby><cites>FETCH-LOGICAL-c357t-1507c34acc44c7cef656a7a03ad79388bb5db7a9a7b7953d151226d2c9f010b83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16485124$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Schnitzler, Fabian</creatorcontrib><creatorcontrib>Brand, Stephan</creatorcontrib><creatorcontrib>Staudinger, Tanja</creatorcontrib><creatorcontrib>Pfennig, Simone</creatorcontrib><creatorcontrib>Hofbauer, Katrin</creatorcontrib><creatorcontrib>Seiderer, Julia</creatorcontrib><creatorcontrib>Tillack, Cornelia</creatorcontrib><creatorcontrib>Göke, Burkhard</creatorcontrib><creatorcontrib>Ochsenkühn, Thomas</creatorcontrib><creatorcontrib>Lohse, Peter</creatorcontrib><title>Eight novel CARD15 variants detected by DNA sequence analysis of the CARD15 gene in 111 patients with inflammatory bowel disease</title><title>Immunogenetics (New York)</title><addtitle>Immunogenetics</addtitle><description>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.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Amino Acid Substitution - genetics</subject><subject>Amino acids</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype</subject><subject>Humans</subject><subject>Inflammatory bowel disease</subject><subject>Inflammatory Bowel Diseases - genetics</subject><subject>Intracellular Signaling Peptides and Proteins - genetics</subject><subject>Male</subject><subject>Mutation</subject><subject>Nod2 Signaling Adaptor Protein</subject><subject>Phenotype</subject><subject>Polymorphism, Genetic</subject><issn>0093-7711</issn><issn>1432-1211</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqFkU1r3DAQhkVJaLZJfkAvReSQm9sZybLs47JJPyAkEJKzkOVxVsEfW0ubsLf-9MjslkIvOQiBeOeZGT2MfUb4igD6WwAQCjMAlY6WmfjAFphLkaFAPGILgEpmWiOesE8hPAOgqkTxkZ1gkZcKRb5gf6790zryYXyhjq-W91eo-IudvB1i4A1FcpEaXu_41e2SB_q9pcERt4PtdsEHPrY8rulv4RMNxP3AEZFvbPQ0Q159XKfHtrN9b-M47Xg9vqZmjQ9kA52x49Z2gc4P9yl7_H79sPqZ3dz9-LVa3mROKh0zVKCdzK1zee60o7ZQhdUWpG10JcuyrlVTa1tZXetKyQbTeqJohKtaQKhLecou99zNNKYtQjS9D466zg40boMpdClKLcS7QQF5hZXCFLz4L_g8bqf0MwkmIKFKmNviPuSmMYSJWrOZfG-nnUEws0Szl2iSRDNLNPMEXw7gbd1T86_iYE2-ASzllWQ</recordid><startdate>200604</startdate><enddate>200604</enddate><creator>Schnitzler, Fabian</creator><creator>Brand, Stephan</creator><creator>Staudinger, Tanja</creator><creator>Pfennig, Simone</creator><creator>Hofbauer, Katrin</creator><creator>Seiderer, Julia</creator><creator>Tillack, Cornelia</creator><creator>Göke, Burkhard</creator><creator>Ochsenkühn, Thomas</creator><creator>Lohse, Peter</creator><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QL</scope><scope>7T5</scope><scope>7T7</scope><scope>7TK</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>RC3</scope><scope>7TM</scope><scope>7X8</scope></search><sort><creationdate>200604</creationdate><title>Eight novel CARD15 variants detected by DNA sequence analysis of the CARD15 gene in 111 patients with inflammatory bowel disease</title><author>Schnitzler, Fabian ; Brand, Stephan ; Staudinger, Tanja ; Pfennig, Simone ; Hofbauer, Katrin ; Seiderer, Julia ; Tillack, Cornelia ; Göke, Burkhard ; Ochsenkühn, Thomas ; Lohse, Peter</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c357t-1507c34acc44c7cef656a7a03ad79388bb5db7a9a7b7953d151226d2c9f010b83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Amino Acid Substitution - 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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.</abstract><cop>United States</cop><pub>Springer Nature B.V</pub><pmid>16485124</pmid><doi>10.1007/s00251-005-0073-2</doi><tpages>8</tpages></addata></record> |
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| subjects | Adolescent Adult Amino Acid Substitution - genetics Amino acids Deoxyribonucleic acid DNA DNA Mutational Analysis Female Genetic Predisposition to Disease Genotype Humans Inflammatory bowel disease Inflammatory Bowel Diseases - genetics Intracellular Signaling Peptides and Proteins - genetics Male Mutation Nod2 Signaling Adaptor Protein Phenotype Polymorphism, Genetic |
| title | Eight novel CARD15 variants detected by DNA sequence analysis of the CARD15 gene in 111 patients with inflammatory bowel disease |
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