The genetics of dilated cardiomyopathy: A prioritized candidate gene study of LMNA, TNNT2, TCAP, and PLN

Clinical Cardiology

Volumn 36, Issue 10, 2013, Pages 628-633

  Hirtle Lewis, Marika ^a,b   Desbiens, Katia ^b   Ruel, Isabelle ^b   Rudzicz, Nicholas ^b   Genest, Jacques ^a,b,c   Engert, James C ^a,b,c   Giannetti, Nadia ^c  

^a MCGILL UNIVERSITY   (Canada)

^b RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^c ROYAL VICTORIA HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CANADA; CONGESTIVE CARDIOMYOPATHY; CONNECTIN GENE; CONTROLLED STUDY; DATA BASE; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GENETIC VARIABILITY; HUMAN; LAMIN A GENE; LAMIN C GENE; MAJOR CLINICAL STUDY; MALE; NONSENSE MUTATION; PHOSPHOLAMBAN GENE; PROMOTER REGION; SEQUENCE ANALYSIS; TROPONIN T GENE;

ADULT; AGED; AGED, 80 AND OVER; CALCIUM-BINDING PROTEINS; CARDIOMYOPATHY, DILATED; CASE-CONTROL STUDIES; CODON, NONSENSE; CONNECTIN; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; FRAMESHIFT MUTATION; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; LAMIN TYPE A; MALE; MIDDLE AGED; PROMOTER REGIONS, GENETIC; QUEBEC; TROPONIN T;

EID: 84885473485     PISSN: 01609289     EISSN: 19328737     Source Type: Journal    
DOI: 10.1002/clc.22193     Document Type: Article

References (29)

1. Colombo MG, Botto N, Vittorini S, et al. Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies. Cardiovasc Ultrasound. 2008; 6: 62.
2. Ackerman MJ, Priori SG, Willems S, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA) [published correction appears in Europace. 2012;14:277]. Europace. 2011; 13: 1077-1109.
3. Sugrue DD, Rodeheffer RJ, Codd MB, et al. The clinical course of idiopathic dilated cardiomyopathy: a population based study. Ann Intern Med. 1992; 117: 117-123.
4. Wiles HB, McArthur PD, Taylor AB, et al. Prognostic features of children with idiopathic dilated cardiomyopathy. Am J Cardiol. 1991; 68: 1372-1376.
5. Hershberger RE, Siegfried J,. Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol. 2011; 57: 1641-1649.
6. Mestroni L, Rocco C, Gregori D, et al. Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. J Am Coll Cardiol. 1999; 34: 181-190.
7. Burkett EL, Hershberger RE,. Clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol. 2005; 45: 969-981.
8. Morita H, Seidman J, Seidman CE,. Genetic causes of human heart failure. J Clin Invest. 2005; 115: 518-526.
9. Hershberger RE, Norton N, Morales A, et al. Coding sequence rare variants identified in MYBPC3, MYH6, TNNC1 and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circ Cardiovasc Genet. 2010; 3: 155-161.
10. Parks SB, Kushner JD, Nauman D, et al. Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. Am Heart J. 2008; 156: 161-169.
11. Hershberger RE, Pinto J, Parks S, et al. Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy. Circ Genet. 2009; 2: 306-313.
12. Lawkdawala NK, Funke BH, Baxter S, et al. Genetic testing for dilated cardiomyopathy in clinical practice. J Card Fail. 2012; 18: 296-303.
13. Hershberger RE, Parks SB, Kushner JD, et al. Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clin Transl Sci. 2008; 1: 21-26.
14. Haghighi K, Chen G, Sato Y, et al. A human phospholamban promoter polymorphism in dilated cardiomyopathy alters transcriptional regulation by glucocorticoids. Hum Mutat. 2008; 29: 640-647.
15. Kumar P, Henikoff S, Ng PC,. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009; 4: 1073-1081.
16. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010; 7: 248-249.
17. Choi Y, Sims GE, Murphy S, et al. Predicting the functional effect of amino acid substitutions and indels. PloS One. 2012; 7: e46688.
18. Bos JM, Poley RN, Ny M, et al. Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. Mol Genet Metab. 2006; 78: 78-85.
19. Perrot A, Posch MG, Osterziel KJ,. Deletion of Glu at codon 13 in the TCAP gene encoding the Z-disc protein titin-cap/telethonin is a rare non-synonymous polymorphism. Mol Genet Metab. 2006; 88: 199-200.
20. Marziliano N, Pilotto A, Grasso M, et al. Deletion of Glu at codon 13 of the TCAP gene encoding the titin-cap-telethonin is a rare polymorphism in a large Italian population. Mol Genet Metab. 2006; 89: 286-287.
21. The SOLVD, Investigators. Effect of enalapril on mortality and the development of heart failure in asymptomatic patients with reduced left ventricular ejection fractions [published correction appears in N Engl J Med. 1992;327:1768]. N Engl J Med. 1992; 327: 685-691.
22. Pan S, Caleshu CA, Dunn KE, et al. Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation clinical perspective. Circ Cardiovasc Genet. 2012; 5: 602-610.
23. Santos DG, Medeiros A, Brum PC, et al. No evidence for an association between the -36A > C phospholamban gene polymorphism and a worse prognosis in heart failure. BMC Cardiovasc Disord. 2009; 9: 33.
24. Villard E, Perret C, Gary F, et al. A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. Eur Heart J. 2011; 32: 1065-1076.
25. Norton N, Li D, Rieder MJ, et al. Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. Am J Hum Genet. 2011; 88: 273-282.
26. Ito H, Yeo KK, Wijetunga M, et al. A comparison of echocardiographic findings in young adults with cardiomyopathy: with and without a history of methamphetamine abuse. Clin Cardiol. 2009; 32: E18-E22.
27. Golbus JR, Puckelwartz MJ, Fahrenbach JP, et al. Population-based variation in cardiomyopathy genes [published correction appears in Circ Cardiovasc Genet. 2012;5:e48]. Circ Cardiovasc Genet. 2012; 5: 391-399.
28. Nelson MR, Wegmann D, Ehm MG, et al. An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science. 2012; 337: 100-104.
29. Tennessen JA, Bigham AW, O'Connor TD, et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science. 2012; 337: 64-69.