Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing

Europace

Volumn 18, Issue 6, 2016, Pages 888-896

  Nunn, Laurence M ^a   Lopes, Luis R ^a   Syrris, Petros ^a   Murphy, Cian ^a   Plagnol, Vincent ^a   Firman, Eileen ^a   Dalageorgou, Chrysoula ^a   Zorio, Esther ^b   Domingo, Diana ^b   Murday, Victoria ^c   Findlay, Iain ^c   Duncan, Alexis ^c   Carr White, Gerry ^d   Robert, Leema ^d   Bueser, Teofila ^d   Langman, Caroline ^d   Fynn, Simon P ^e   Goddard, Martin ^e   White, Anne ^e   Bundgaard, Henning ^f   Ferrero Miliani, Laura ^g   Wheeldon, Nigel ^h   Suvarna, Simon K ^h   O'Beirne, Aliceson ^h   Lowe, Martin D ^a   McKenna, William J ^a   Elliott, Perry M ^a   Lambiase, Pier D ^a   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b HOSPITAL UNIVERSITARIO LA FE   (Spain)

^c Rehabilitation Engineering Services   (United Kingdom)

^d ST THOMAS HOSPITAL   (United Kingdom)

^e PAPWORTH HOSPITAL   (United Kingdom)

^f Rigshospitalet   (Denmark)

^g UNIVERSITY OF COPENHAGEN   (Denmark)

^h S Yorkshire Cardiothoracic Centre   (United Kingdom)

Author keywords

Brugada syndrome; Exome sequencing; Long QT syndrome; Molecular autopsy; SADS; Sudden cardiac death

Indexed keywords

DNA; ION CHANNEL; SODIUM CHANNEL NAV1.5; SCN5A PROTEIN, HUMAN;

ADOLESCENT; ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; AUTOPSY; BRUGADA SYNDROME; CARDIOMYOPATHY; CASE CONTROL STUDY; CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; CHANNELOPATHY; CHILD; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; DNA EXTRACTION; DNA ISOLATION; EXOME; EXOME SEQUENCING; FEASIBILITY STUDY; FEMALE; FIRST-DEGREE RELATIVE; GENE FREQUENCY; GENE TARGETING; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HEART ARRHYTHMIA; HEART DISEASE; HEART LEFT VENTRICLE HYPERTROPHY; HEART RIGHT VENTRICLE DYSPLASIA; HEART VENTRICLE FIBRILLATION; HUMAN; INHERITANCE; LONG QT SYNDROME; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MULTICENTER STUDY; NONSENSE MUTATION; POLYMORPHIC VENTRICULAR TACHYCARDIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SUDDEN ARRHYTHMIC DEATH SYNDROME; SUDDEN CARDIAC DEATH; VICTIM; YOUNG ADULT; CLINICAL TRIAL; COHORT ANALYSIS; DEATH, SUDDEN, CARDIAC; DNA SEQUENCE; GENETIC PREDISPOSITION; GENETICS; INFANT; MIDDLE AGED; MUTATION; PEDIGREE; UNITED KINGDOM;

ADOLESCENT; ADULT; AUTOPSY; BRUGADA SYNDROME; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DEATH, SUDDEN, CARDIAC; EXOME; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; INFANT; LONG QT SYNDROME; MALE; MIDDLE AGED; MUTATION; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; PEDIGREE; SEQUENCE ANALYSIS, DNA; UNITED KINGDOM; YOUNG ADULT;

EID: 84983751834     PISSN: 10995129     EISSN: 15322092     Source Type: Journal    
DOI: 10.1093/europace/euv285     Document Type: Article

References (34)

1. Behr E, Casey A, Sheppard M, Wright M, Bowker T, Davies M et al. Sudden Arrhythmic Death Syndrome: a national survey of sudden unexplained cardiac death. Heart 2007;93:601-5.
2. Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C et al. Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. Europace 2013;15: 1389-406.
3. Nunn LM, Lambiase PD. Genetics and cardiovascular disease-causes and prevention of unexpected sudden adult death: the role of the SADS clinic. Heart 2011;97: 1122-7.
4. Bagnall R, Das J, Duflou J, Semsarian C. Exome analysis-based molecular autopsy in cases of sudden unexplained death in the young. Heart Rhythm 2014;11:655-62.
5. Consortium TG. An integrated map of genetic variation from 1,092 human genomes. Nature 2012;491:56-65.
6. Splawski I, Shen J, Timothy K, Lehmann M, Priori S, Robinson J. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1 and KCNE2. Circulation 2000;102:1178-85.
7. Kambouris N, Nuss H, Johns D, Tomaselli G, Marban E, Balser J. Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel. Circulation 1998;97:640-4.
8. Tester D, Will M, Haglund C, Ackerman M. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm 2005;2:507-17.
9. Kapplinger J, Tester D, Alders M, Benito B, Berthet M, Brugada J et al. An international compendiumof mutations in the SCN5A-encoded cardiac sodiumchannel in patients referred for Brugada syndrome genetic testing. Heart Rhythm 2010;7: 33-46.
10. Goldenberg I, Horr S, Moss A, Lopes C, Barsheshet A, McNitt S et al. Risk for lifethreatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals. J Am Coll Cardiol 2011;57:51-9.
11. Kawamura M, Ohno S, Naiki N, Nagaoka I, Dochi K, Wang Q et al. Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J 2013;77:1705-13.
12. Fressart V, Duthoit G, Donal E, Probst V, Deharo J, Chevalier P et al. Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. Europace 2010;12:861-8.
13. Burashnikov E, Pfeiffer R, Barajas-Martinez H, Delpon E, Hu D, Desai M et al. Mutations in the cardiac L-type calcium channel associated with inherited J wave syndromes and sudden cardiac death. Heart Rhythm 2010;7:1872-82.
14. Crotti L, Marcou C, Tester D, Castelletti S, Giudicessi J, Torchio M et al. Spectrum and prevalence of mutations involving BrS1-through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. J Am Coll Cardiol 2012;60:1410-8.
15. Kapa S, Tester D, Salisbury B, Harris-Kerr C, Pungliya M, Alders M et al. Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation 2009;120:1752-60.
16. Refsgaard L, Holst A, Sadjadieh G, Haunsø S, Nielsen J, Olesen M. High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet 2012;20:905-8.
17. Olesen MS, Jensen NF, Holst AG, Nielsen JB, Tfelt-Hansen J, Jespersen T et al. A novel nonsense variant in Nav1.5 cofactor MOG1 eliminates its sodium current increasing effect and may increase the risk of arrhythmias. Can J Cardiol 2011;27: 523.e17-23.
18. Risgaard B, Jabbari R, Refsgaard L, Holst A, Haunsø S, Sadjadieh A et al. High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet 2013;84:489-95.
19. Mohler P, Splawski I, Napolitano C, Bottelli G, Sharpe L, Timothy K et al. A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. Proc Natl Acad Sci USA 2004;101:9137-42.
20. Mohler P, Le Scouarnec S, Denjoy I, Lowe J, Guicheney P, Caron L et al. Defining the cellular phenotype of 'ankyrin-B syndrome' variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes. Circulation 2007;115:432-41.
21. Sherman J, Tester D, Ackerman M. Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects. Heart Rhythm 2005;2:1218-23.
22. Garcia-Pavia P, Syrris P, Salas C, Evans A, Mirelis J, Cobo-Marcos M et al. Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study. Heart 2011;97: 1744-52.
23. Genschel J, Bochow B, Kuepferling S, Ewert R, Hetzer R, Lochs H. A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy. Hum Mutat 2001;17:154.
24. Genschel J, Schmidt H. Mutations in the LMNA gene encoding lamin A/C. Hum Mutat 2000;16:451-9.
25. Rankin J, Auer-Grumbach M, Bagg W, Colclough K, Nguyen T, Fenton-May J et al. Extreme phenotypic diversity and non-penetrance in families with the LMNA gene mutation R644C. Am J Med Genet A 2008;146:1530-42.
26. Purevjav E, Arimura T, Augustin S, Huby A, Takagi K, Nunoda S et al. Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. Hum Mol Genet 2012;21:2039-53.
27. Refaat M, Lubitz S, Makino S, Islam Z, Frangiskakis J, Mehdi H et al. Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy. Heart Rhythm 2012;9:390-6.
28. Gomes J, Finlay M, Ahmed AK, Ciaccio EJ, Asimaki A, Saffitz JE et al. Electrophysiological abnormalities precede overt structural changes in arrhythmogenic right ventricular cardiomyopathy due to mutations in desmoplakin-A combined murine and human study. Eur Heart J 2012;33:1942-53.
29. Hasselberg NE, Edvardsen T, Petri H, Berge KE, Leren TP, Bundgaard H et al. Risk prediction of ventricular arrhythmias and myocardial function in Lamin A/C mutation positive subjects. Europace 2014;16:563-71.
30. Punetha J, Hoffman EP. Short read (next generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar. Circ Cardiovasc Genet 2013;6:427-34.
31. Herman DS, Lam L, Taylor MRG, Wang L, Teekakirikul P, Christodoulou D et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med 2012;366: 619-28.
32. Andreasen C, Nielsen JB, Refsgaard L, Holst AG, Christensen AH, Andreasen L et al. New population-based exome data are questioning the pathogenicity of previous cardiomyopathy-associated genetic variants. Eur J Hum Genet 2013;21: 918-28.
33. Campuzano O, Allegue C, Fernandez A, Iglesias A, Brugada R. Determining the pathogenicity of genetic variants associated with cardiac channelopathies. Sci Rep 2015;5:7953.
34. Postema P, Christiaans I, Hofman N, Alders M, Koopmann T, Bezzina C et al. Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6. Neth Heart J 2011;19:290-6.