Correction: Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment (Genetics in Medicine, (2014), 16, 4, (286-293), 10.1038/gim.2013.138);Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: Importance of periodic reassessment

Genetics in Medicine

Volumn 16, Issue 4, 2014, Pages 286-293

  Jipin Das, K ^a,b   Ingles, Jodie ^a,b   Bagnall, Richard D ^a,b   Semsarian, Christopher ^a,b,c  

^a CENTENARY INSTITUTE   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c ROYAL PRINCE ALFRED HOSPITAL   (Australia)

Author keywords

genetic testing; hypertrophic cardiomyopathy; pathogenicity; SNV

Indexed keywords

3' UNTRANSLATED REGION; ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC VARIABILITY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INTRON; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MYBPC3 GENE; MYH7 GENE; NONSENSE MUTATION; PATHOGENICITY; SINGLE NUCLEOTIDE POLYMORPHISM; CARDIOMYOPATHY, HYPERTROPHIC; GENETIC SCREENING; GENETICS; MIDDLE AGED; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD; YOUNG ADULT;

CARDIAC MYOSIN; CARRIER PROTEIN; MYH7 PROTEIN, HUMAN; MYOSIN HEAVY CHAIN; MYOSIN-BINDING PROTEIN C;

ADOLESCENT; ADULT; AGED; CARDIAC MYOSINS; CARDIOMYOPATHY, HYPERTROPHIC; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC TESTING; GENETIC VARIATION; HUMANS; MALE; MIDDLE AGED; MYOSIN HEAVY CHAINS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 84898418042     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2018.21     Document Type: Erratum

References (39)

1. Gersh BJ, Maron BJ, Bonow RO, et al.; American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines; American Association for Thoracic Surgery; American Society of Echocardiography; American Society of Nuclear Cardiology; Heart Failure Society of America; Heart Rhythm Society; Society for Cardiovascular Angiography and Interventions; Society of Thoracic Surgeons. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation 2011;124:2761-2796.
2. Seidman JG, Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell 2001;104:557-567.
3. Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. Circulation 1995;92:785-789.
4. Maron BJ. Sudden death in young athletes. Lessons from the Hank Gathers affair. N Engl J Med 1993;329:55-57.
5. Chiu C, Bagnall RD, Ingles J, et al. Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. J Am Coll Cardiol 2010;55:1127-1135.
6. Richard P, Charron P, Carrier L, et al.; EUROGENE Heart Failure Project. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003;107:2227-2232.
7. Maron BJ, Maron MS, Semsarian C. Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives. J Am Coll Cardiol 2012;60:705-715.
8. Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. J Med Genet 2005;42:e59.
9. Maron BJ, Maron MS, Semsarian C. Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors. Heart Rhythm 2012;9:57-63.
10. Gray B, Yeates L, Medi C, Ingles J, Semsarian C. Homozygous mutation in the cardiac troponin I gene: clinical heterogeneity in hypertrophic cardiomyopathy. Int J Cardiol 2012; e-pub ahead of print 24 December 2012.
11. Mörner S, Richard P, Kazzam E, et al. Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. J Mol Cell Cardiol 2003;35:841-849.
12. Erdmann J, Daehmlow S, Wischke S, et al. Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. Clin Genet 2003;64:339-349.
13. Van Driest SL, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ. Yield of genetic testing in hypertrophic cardiomyopathy. Mayo Clin Proc 2005;80:739-744.
14. Meder B, Haas J, Keller A, et al. Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies. Circ Cardiovasc Genet 2011;4:110-122.
15. Richards CS, Bale S, Bellissimo DB, et al.; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee. ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007. Genet Med 2008;10:294-300.
16. Cooper GM, Goode DL, Ng SB, et al. Single-nucleotide evolutionary constraint scores highlight disease-causing mutations. Nat Methods 2010;7:250-251.
17. Siepel A, Bejerano G, Pedersen JS, et al. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res 2005;15: 1034-1050.
18. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-249.
19. Grantham R. Amino acid difference formula to help explain protein evolution. Science 1974;185:862-864.
20. Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 2001;11:863-874.
21. Stenson PD, Mort M, Ball EV, et al. The Human Gene Mutation Database: 2008 update. Genome Med 2009;1:13.
22. Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1,092 human genomes. Nature 2012;491:56-65
23. Ingles J, Sarina T, Yeates L, et al. Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy. Genet Med 2013;15:972-977.
24. Maron BJ. Hypertrophic cardiomyopathy: a systematic review. JAMA 2002;287:1308-1320.
25. Refsgaard L, Holst AG, Sadjadieh G, Haunsø S, Nielsen JB, Olesen MS. High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet 2012;20:905-908.
26. Norton N, Robertson PD, Rieder MJ, et al.; National Heart, Lung and Blood Institute GO Exome Sequencing Project. Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era. Circ Cardiovasc Genet 2012;5:167-174.
27. Andreasen C, Nielsen JB, Refsgaard L, et al. New population-based exome data are questioning the pathogenicity of previously cardiomyopathyassociated genetic variants. Eur J Hum Genet 2013;21:918-928.
28. Golbus JR, Puckelwartz MJ, Fahrenbach JP, Dellefave-Castillo LM, Wolfgeher D, McNally EM. Population-based variation in cardiomyopathy genes. Circ Cardiovasc Genet 2012;5:391-399.
29. Takahashi-Yanaga F, Morimoto S, Harada K, et al. Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy. J Mol Cell Cardiol 2001;33:2095-2107.
30. Elliott K, Watkins H, Redwood CS. Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. J Biol Chem 2000;275:22069-22074.
31. Rodríguez-García MI, Monserrat L, Ortiz M, et al. Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy. BMC Med Genet 2010;11:67.
32. Ingles J, Lind JM, Phongsavan P, Semsarian C. Psychosocial impact of specialized cardiac genetic clinics for hypertrophic cardiomyopathy. Genet Med 2008;10:117-120.
33. Ingles J, Yeates L, Semsarian C. The emerging role of the cardiac genetic counselor. Heart Rhythm 2011;8:1958-1962.
34. Maron BJ, Yeates L, Semsarian C. Clinical challenges of genotype positive (+)-phenotype negative (-) family members in hypertrophic cardiomyopathy. Am J Cardiol 2011;107:604-608.
35. Maron BJ, Semsarian C. Emergence of gene mutation carriers and the expanding disease spectrum of hypertrophic cardiomyopathy. Eur Heart J 2010;31:1551-1553.
36. 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). Heart Rhythm 2011;8:1308-1339.
37. Ingles J, Semsarian C. Sudden cardiac death in the young: a clinical genetic approach. Intern Med J 2007;37:32-37.
38. Hershberger RE, Lindenfeld J, Mestroni L, Seidman CE, Taylor MR, Towbin JA; Heart Failure Society of America. Genetic evaluation of cardiomyopathy-a Heart Failure Society of America practice guideline. J Card Fail 2009; 15:83-97.
39. Christiaans I, Birnie E, Bonsel GJ, Wilde AA, van Langen IM. Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy. Eur J Hum Genet 2008;16:1201-1207.