Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: A massively parallel sequencing study

Circulation: Cardiovascular Genetics

Volumn 7, Issue 6, 2014, Pages 741-750

  Girolami, Francesca ^a   Iascone, Maria ^b   Tomberli, Benedetta ^a   Bardi, Sara ^a   Benelli, Matteo ^a   Marseglia, Giuseppina ^a   Pescucci, Chiara ^a   Pezzoli, Laura ^b   Sana, Maria Elena ^b   Basso, Cristina ^c   Marziliano, Nicola ^d,e   Merlini, Piera Angelica ^f   Fornaro, Alessandra ^a   Cecchi, Franco ^g   Torricelli, Francesca ^a   Olivotto, Iacopo ^a  

^a CAREGGI UNIVERSITY HOSPITAL   (Italy)

^b OSPEDALI RIUNITI   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

^d OSPEDALE NIGUARDA CA GRANDA   (Italy)

^e UNIVERSITY HOSPITAL OF PARMA   (Italy)

^f Department of Clinical and Experimental Medicine ^*  (United States)

^g UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Atrial fibrillation; Cardiomyopathy; Genetic testing; Hypertrophic

Indexed keywords

ACTIN BINDING PROTEIN; ARGININE; GLUTAMINE; LEUCINE; METHIONINE; PROLINE; THREONINE; ACTININ; ACTN2 PROTEIN, HUMAN;

ADULT; AGED; ALLELE; ALPHA ACTININ 2 GENE; ARTICLE; ATRIOVENTRICULAR BLOCK; AUTOSOMAL DOMINANT DISORDER; BIOINFORMATICS; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HEART ATRIUM ARRHYTHMIA; HEART ATRIUM FIBRILLATION; HEART DILATATION; HUMAN; ITALIAN (CITIZEN); MALE; MIDDLE AGED; NEXT GENERATION SEQUENCING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; VENTRICULAR NONCOMPACTION; VERY ELDERLY; YOUNG ADULT; ATRIAL FIBRILLATION; COMPLICATION; DNA SEQUENCE; ECHOGRAPHY; GENETICS; HEART VENTRICLE SEPTUM; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; MISSENSE MUTATION; PATHOLOGY; PEDIGREE;

ACTININ; ADULT; AGED; AGED, 80 AND OVER; ATRIAL FIBRILLATION; CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; CHILD, PRESCHOOL; FEMALE; HEART SEPTUM; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84925845451     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.113.000486     Document Type: Article

References (42)

1. Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, 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
2. Olivotto I, Girolami F, Ackerman MJ, Nistri S, Bos JM, Zachara E, Ommen SR, et al. Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. Mayo Clin Proc. 2008;83:630-638
3. Maron BJ, Maron MS, Semsarian C. Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives. J Am Coll Cardiol. 2012;60:705-715
4. 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
5. Olivotto I, Cecchi F, Poggesi C, Yacoub MH. Patterns of disease progression in hypertrophic cardiomyopathy: an individualized approach to clinical staging. Circ Heart Fail. 2012;5:535-546
6. Bos JM, Towbin JA, Ackerman MJ. Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy. J Am Coll Cardiol. 2009;54:201-211
7. Wang H, Li Z, Wang J, Sun K, Cui Q, Song L, Zou Y, et al. Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. Am J Hum Genet. 2010;87:687-693
8. Kimura A. Molecular basis of hereditary cardiomyopathy: abnormalities in calcium sensitivity, stretch response, stress response and beyond. J Hum Genet. 2010;55:81-90
9. Voelkerding KV, Dames SA, Durtschi JD. Next-generation sequencing: from basic research to diagnostics. Clin Chem. 2009;55:641-658
10. Ware JS, Roberts AM, Cook SA. Next generation sequencing for clinical diagnostics and personalised medicine: implications for the next generation cardiologist. Heart. 2012;98:276-281
11. Lang RM, Bierig M, Devereux RB, Flachskampf FA, Foster E, Pellikka PA, Picard MH, et al; Chamber Quantification Writing Group; American Society of Echocardiography's Guidelines and Standards Committee; European Association of Echocardiography. Recommendations for chamber quantification: a report from the American Society of Echocardiography's Guidelines and Standards Committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardiology. J Am Soc Echocardiogr. 2005;18:1440-1463
12. Jenni R, Oechslin E, Schneider J, Attenhofer Jost C, Kaufmann PA. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart. 2001;86:666-671
13. Stenson PD, Ball EV, Howells K, Phillips AD, Mort M, Cooper DN. The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics. Hum Genomics. 2009;4:69-72
14. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25:1754-1760
15. Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, et al; 1000 Genome Project Data Processing Subgroup. The Sequence Alignment/Map format and SAMtools. Bioinformatics. 2009;25:2078-2079
16. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20:1297-1303
17. Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from hight throughput sequencing data. Nucleic Acids Res. 2010;38:164
18. Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, Friez MJ, et al; Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Commitee. ACMG clinical laboratory standards for next-generation sequencing. Genet Med. 2013;15:733-747
19. Magi A, Benelli M, Gozzini A, Girolami F, Torricelli F, Brandi ML. Bioinformatics for next generation sequencing data. Genes (Basel). 2010;1:294-307
20. Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010;7:575-576
21. 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
22. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7:248-249
23. Sanger F. The Croonian Lecture, 1975. Nucleotide sequences in DNA. Proc R Soc Lond B Biol Sci. 1975;191:317-333
24. Weiss MM, Van der Zwaag B, Jongbloed JD, Vogel MJ, Brüggenwirth HT, Lekanne Deprez RH, et al. Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories. Hum Mutat. 2013;34:1313-1321
25. Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, 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
26. Harakalova M, Nijman IJ, Medic J, Mokry M, Renkens I, Blankensteijn JD, et al. Genomic DNA pooling strategy for next-generation sequencingbased rare variant discovery in abdominal aortic aneurysm regions of interest-challenges and limitations. J Cardiovasc Transl Res. 2011;4:271-280
27. Mardis ER. The impact of next-generation sequencing technology on genetics. Trends Genet. 2008;24:133-141
28. Theis JL, Bos JM, Bartleson VB, Will ML, Binder J, Vatta M, et al. Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. Biochem Biophys Res Commun. 2006;351:896-902
29. Chiu C, Bagnall RD, Ingles J, Yeates L, Kennerson M, Donald JA, et al. Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. J Am Coll Cardiol. 2010;55:1127-1135
30. Posch MG, Perrot A, Berger F, Ozcelik C. Molecular genetics of congenital atrial septal defects. Clin Res Cardiol. 2010;99:137-147
31. Torricelli F, Girolami F, Olivotto I, Passerini I, Frusconi S, Vargiu D, et al. Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscany. Am J Cardiol. 2003;92:1358-1362
32. Girolami F, Olivotto I, Passerini I, Zachara E, Nistri S, Re F, et al. A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy. J Cardiovasc Med (Hagerstown). 2006;7:601-607
33. Girolami F, Ho CY, Semsarian C, Baldi M, Will ML, Baldini K, et al. Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. J Am Coll Cardiol. 2010;55:1444-1453
34. Voelkerding KV, Dames S, Durtschi JD. Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology. J Mol Diagn. 2010;12:539-551
35. Schnabel RB, Baccarelli A, Lin H, Ellinor PT, Benjamin EJ. Next steps in cardiovascular disease genomic research-sequencing, epigenetics, and transcriptomics. Clin Chem. 2012;58:113-126
36. Haas J, Katus HA, Meder B. Next-generation sequencing entering the clinical arena. Mol Cell Probes. 2011;25:206-211
37. Lopes LR, Zekavati A, Syrris P, Hubank M, Giambartolomei C, Dalageorgou C, et al; Uk10k Consortium. Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. J Med Genet. 2013;50:228-239
38. Voelkerding KV, Dames SA, Durtschi JD. Next-generation sequencing: from basic research to diagnostics. Clin Chem. 2009;55:641-658
39. Meder B, Haas J, Keller A, Heid C, Just S, Borries A, et al. Targeted nextgeneration sequencing for the molecular genetic diagnostics of cardiomyopathies. Circ Cardiovasc Genet. 2011;4:110-122
40. Rabbani B, Mahdieh N, Hosomichi K, Nakaoka H, Inoue I. Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders. J Hum Genet. 2012;57:621-632
41. MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, et al. Guidelines for investigating causality of sequence variants in human disease. Nature. 2014;508:469-476
42. Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012;366:619-628.