A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy
2008; Wiley; Volume: 29; Issue: 6 Linguagem: Inglês
10.1002/humu.20749
ISSN1098-1004
AutoresSiv Fokstuen, Robert Lyle, Analia Muñoz, Corinne Gehrig, René Lerch, Andreas Perrot, Karl Josef Osterziel, Christian Geier, Maurice Beghetti, François Mach, Juan Sztajzel, Ulrich Sigwart, Stylianos E. Antonarakis, Jean‐Louis Blouin,
Tópico(s)Williams Syndrome Research
ResumoHuman MutationVolume 29, Issue 6 p. 879-885 Methods A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy† Siv Fokstuen, Corresponding Author Siv Fokstuen [email protected] Genetic Medicine, University Hospitals of Geneva, Geneva, SwitzerlandGenetic Medicine, Centre Médical Universitaire, 1 rue Michel-Servet, 1211 Geneva 4, SwitzerlandSearch for more papers by this authorRobert Lyle, Robert Lyle Department of Genetic Medicine and Development, University of Geneva School of Medicine, Geneva, SwitzerlandSearch for more papers by this authorAnalia Munoz, Analia Munoz Department of Genetic Medicine and Development, University of Geneva School of Medicine, Geneva, SwitzerlandSearch for more papers by this authorCorinne Gehrig, Corinne Gehrig Department of Genetic Medicine and Development, University of Geneva School of Medicine, Geneva, SwitzerlandSearch for more papers by this authorRené Lerch, René Lerch Cardiology, University Hospitals of Geneva, Geneva, SwitzerlandSearch for more papers by this authorAndreas Perrot, Andreas Perrot Cardiology at Campus Buch & Virchow-Klinikum, Charité-Universitaetsmedizin Berlin, Berlin, GermanySearch for more papers by this authorKarl Josef Osterziel, Karl Josef Osterziel Cardiology at Campus Buch & Virchow-Klinikum, Charité-Universitaetsmedizin Berlin, Berlin, GermanySearch for more papers by this authorChristian Geier, Christian Geier Cardiology at Campus Buch & Virchow-Klinikum, Charité-Universitaetsmedizin Berlin, Berlin, GermanySearch for more papers by this authorMaurice Beghetti, Maurice Beghetti Pediatric Cardiology, University Hospitals of Geneva, Geneva, SwitzerlandSearch for more papers by this authorFrançois Mach, François Mach Cardiology, University Hospitals of Geneva, Geneva, SwitzerlandSearch for more papers by this authorJuan Sztajzel, Juan Sztajzel Cardiology, University Hospitals of Geneva, Geneva, SwitzerlandSearch for more papers by this authorUlrich Sigwart, Ulrich Sigwart Cardiology, University Hospitals of Geneva, Geneva, SwitzerlandSearch for more papers by this authorStylianos E. Antonarakis, Stylianos E. Antonarakis Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland Department of Genetic Medicine and Development, University of Geneva School of Medicine, Geneva, SwitzerlandSearch for more papers by this authorJean-Louis Blouin, Jean-Louis Blouin Genetic Medicine, University Hospitals of Geneva, Geneva, SwitzerlandSearch for more papers by this author Siv Fokstuen, Corresponding Author Siv Fokstuen [email protected] Genetic Medicine, University Hospitals of Geneva, Geneva, SwitzerlandGenetic Medicine, Centre Médical Universitaire, 1 rue Michel-Servet, 1211 Geneva 4, SwitzerlandSearch for more papers by this authorRobert Lyle, Robert Lyle Department of Genetic Medicine and Development, University of Geneva School of Medicine, Geneva, SwitzerlandSearch for more papers by this authorAnalia Munoz, Analia Munoz Department of Genetic Medicine and Development, University of Geneva School of Medicine, Geneva, SwitzerlandSearch for more papers by this authorCorinne Gehrig, Corinne Gehrig Department of Genetic Medicine and Development, University of Geneva School of Medicine, Geneva, SwitzerlandSearch for more papers by this authorRené Lerch, René Lerch Cardiology, University Hospitals of Geneva, Geneva, SwitzerlandSearch for more papers by this authorAndreas Perrot, Andreas Perrot Cardiology at Campus Buch & Virchow-Klinikum, Charité-Universitaetsmedizin Berlin, Berlin, GermanySearch for more papers by this authorKarl Josef Osterziel, Karl Josef Osterziel Cardiology at Campus Buch & Virchow-Klinikum, Charité-Universitaetsmedizin Berlin, Berlin, GermanySearch for more papers by this authorChristian Geier, Christian Geier Cardiology at Campus Buch & Virchow-Klinikum, Charité-Universitaetsmedizin Berlin, Berlin, GermanySearch for more papers by this authorMaurice Beghetti, Maurice Beghetti Pediatric Cardiology, University Hospitals of Geneva, Geneva, SwitzerlandSearch for more papers by this authorFrançois Mach, François Mach Cardiology, University Hospitals of Geneva, Geneva, SwitzerlandSearch for more papers by this authorJuan Sztajzel, Juan Sztajzel Cardiology, University Hospitals of Geneva, Geneva, SwitzerlandSearch for more papers by this authorUlrich Sigwart, Ulrich Sigwart Cardiology, University Hospitals of Geneva, Geneva, SwitzerlandSearch for more papers by this authorStylianos E. Antonarakis, Stylianos E. Antonarakis Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland Department of Genetic Medicine and Development, University of Geneva School of Medicine, Geneva, SwitzerlandSearch for more papers by this authorJean-Louis Blouin, Jean-Louis Blouin Genetic Medicine, University Hospitals of Geneva, Geneva, SwitzerlandSearch for more papers by this author First published: 22 May 2008 https://doi.org/10.1002/humu.20749Citations: 58 † Communicated by Michel Goossens AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Abstract Hypertrophic cardiomyopathy (HCM) is a heterogeneous autosomal dominant cardiac disorder with a prevalence of 1 in 500. Over 450 different pathogenic mutations in at least 16 genes have been identified so far. The large allelic and genetic heterogeneity of HCM requires high-throughput, rapid, and affordable mutation detection technologies to efficiently integrate molecular screening into clinical practice. We developed a custom DNA resequencing array that contains both strands of all coding exons (160), splice-site junctions, and 5′UTR regions of 12 genes that have been clearly implicated in HCM (MYH7, MYBPC3, TNNT2, TPM1, TNNI3, MYL3, MYL2, CSRP3, PLN, ACTC, TNNC1, and PRKAG2). We analyzed a first series of 38 unrelated patients with HCM (17 familial, 21 sporadic). A total of 953,306 bp across the 38 patients were sequenced with a mean nucleotide call rate of 96.92% (range: 93–99.9%). Pathogenic mutations (single nucleotide substitutions) in MYH7, MYBPC3, TNNI3, and MYL3 (six known and six novel) were identified in 60% (10/17) of familial HCM and 10% of sporadic cases (2/21). The high-throughput HCM resequencing array is the most rapid and cost-effective tool for molecular testing of HCM to date; it thus has considerable potential in diagnostic and predictive testing, and prognostic stratification. Hum Mutat 29(6), 879–885, 2008. © 2008 Wiley-Liss, Inc. Citing Literature Supporting Information The Supplementary Material referred to in this article can be accessed at http://www.interscience.wiley.com/jpages/1059-7794/suppmat . Filename Description humu20749-FINALSuppMat07-051601_10.pdf20.8 KB Supporting Information file humu20749-FINALSuppMat07-051601_10.pdf Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article. Volume29, Issue6June 2008Pages 879-885 RelatedInformation
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