Familial dilated cardiomyopathy caused by a novel frameshift in the BAG3 gene

PLoS ONE

Volumn 11, Issue 7, 2016, Pages

  Toro, Rocio ^a   Pérez Serra, Alexandra ^b   Campuzano, Oscar ^b   Moncayo Arlandi, Javier ^b   Allegue, Catarina ^b   Iglesias, Anna ^b   Mangas, Alipio ^a   Brugada, Ramon ^a,b  

^a School of Medicine   (Spain)

^b UNIVERSITY OF GIRONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

C REACTIVE PROTEIN; HISTIDINE; APOPTOSIS REGULATORY PROTEIN; BAG3 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADOLESCENT; ADULT; AGED; ARTICLE; BAG3 GENE; CARDIOVASCULAR PARAMETERS; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL STUDY; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; DISEASE SEVERITY; DYSPNEA; ECHOCARDIOGRAPHY; FAMILIAL DISEASE; FEMALE; FEVER; FIBROSING ALVEOLITIS; FRAMESHIFT MUTATION; GENE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC VARIATION; GENOTYPE PHENOTYPE CORRELATION; HEART DILATATION; HEART FAILURE; HEART VENTRICLE HYPERTROPHY; HEMOPTYSIS; HETEROZYGOTE; HUMAN; HUMAN TISSUE; LEFT VENTRICULAR DILATION; LEUKOCYTOSIS; MALE; POLYPLOIDY; PROTO DIASTOLIC SEPTAL KNOCK; PULMONARY HYPERTENSION; SANGER SEQUENCING; SEQUENCE ANALYSIS; SPAIN; SPANIARD; SUDDEN CARDIAC DEATH; CARDIOMYOPATHY, DILATED; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MIDDLE AGED; PHENOTYPE; PRESCHOOL CHILD; YOUNG ADULT;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; AGED; APOPTOSIS REGULATORY PROTEINS; CARDIOMYOPATHY, DILATED; CHILD; CHILD, PRESCHOOL; ECHOCARDIOGRAPHY; FEMALE; FRAMESHIFT MUTATION; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; PHENOTYPE; YOUNG ADULT;

EID: 84978695924     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0158730     Document Type: Article

References (31)

1. Jefferies JL, Towbin JA. Dilated cardiomyopathy. Lancet. 2010; 375(9716):752-62. Epub 2010/03/02. doi: 10.1016/S0140-6736(09)62023-7 PMID: 20189027
2. Morales A, Hershberger RE. Genetic evaluation of dilated cardiomyopathy. Current cardiology reports. 2013; 15(7):375. Epub 2013/05/21. doi: 10.1007/s11886-013-0375-1 PMID: 23686784
3. Haas J, Frese KS, Peil B, Kloos W, Keller A, Nietsch R, et al. Atlas of the clinical genetics of human dilated cardiomyopathy. European heart journal. 2015; 36(18):1123-35a. Epub 2014/08/29. doi: 10. 1093/eurheartj/ehu301 PMID: 25163546
4. Cuenca S, Ruiz-Cano MJ, Gimeno-Blanes JR, Jurado A, Salas C, Gomez-Diaz I, et al. Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. The Journal of heart and lung transplantation: the official publication of the International Society for Heart Transplantation. 2016. Epub 2016/02/24.
5. Akinrinade O, Ollila L, Vattulainen S, Tallila J, Gentile M, Salmenpera P, et al. Genetics and genotypephenotype correlations in Finnish patients with dilated cardiomyopathy. European heart journal. 2015; 36(34):2327-37. Epub 2015/06/19. doi: 10.1093/eurheartj/ehv253 PMID: 26084686
6. Gupta P, Bilinska ZT, Sylvius N, Boudreau E, Veinot JP, Labib S, et al. Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption. Basic research in cardiology. 2010; 105(3):365-77. Epub 2010/ 02/04. doi: 10.1007/s00395-010-0085-4 PMID: 20127487
7. Norton N, Li D, Rieder MJ, Siegfried JD, Rampersaud E, Zuchner S, et al. Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. American journal of human genetics. 2011; 88(3):273-82. Epub 2011/03/01. doi: 10. 1016/j.ajhg.2011.01.016 PMID: 21353195
8. Villard E, Perret C, Gary F, Proust C, Dilanian G, Hengstenberg C, et al. A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. European heart journal. 2011; 32(9):1065-76. Epub 2011/04/05. doi: 10.1093/eurheartj/ehr105 PMID: 21459883
9. Takayama S, Xie Z, Reed JC. An evolutionarily conserved family of Hsp70/Hsc70 molecular chaperone regulators. The Journal of biological chemistry. 1999; 274(2):781-6. Epub 1999/01/05. PMID: 9873016
10. Arimura T, Ishikawa T, Nunoda S, Kawai S, Kimura A. Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes. Human mutation. 2011; 32(12):1481-91. Epub 2011/09/08. doi: 10.1002/humu.21603 PMID: 21898660
11. Hishiya A, Kitazawa T, Takayama S. BAG3 and Hsc70 interact with actin capping protein CapZ to maintain myofibrillar integrity under mechanical stress. Circulation research. 2010; 107(10):1220-31. Epub 2010/10/05. doi: 10.1161/CIRCRESAHA.110.225649 PMID: 20884878
12. Franaszczyk M, Bilinska ZT, Sobieszcza Ska-Ma Ek MG, Michalak E, Sleszycka J, Sioma A, et al. The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation. Journal of translational medicine. 2014; 12(1):192. Epub 2014/07/11.
13. Lang RM, Badano LP, Mor-Avi V, Afilalo J, Armstrong A, Ernande L, et al. Recommendations for cardiac chamber quantification by echocardiography in adults: an update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging. Journal of the American Society of Echocardiography: official publication of the American Society of Echocardiography. 2015; 28(1):1-39 e14. Epub 2015/01/07.
14. Perez-Serra A, Toro R, Campuzano O, Sarquella-Brugada G, Berne P, Iglesias A, et al. A novel mutation in lamin a/c causing familial dilated cardiomyopathy associated with sudden cardiac death. Journal of cardiac failure. 2015; 21(3):217-25. Epub 2014/12/17. doi: 10.1016/j.cardfail.2014.12.003 PMID: 25498755
15. Marco-Sola S, Sammeth M, Guigo R, Ribeca P. The GEM mapper: fast, accurate and versatile alignment by filtration. Nature methods. 2012; 9(12):1185-8. Epub 2012/10/30. doi: 10.1038/nmeth.2221 PMID: 23103880
16. Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics. 2009; 25(16):2078-9. Epub 2009/06/10. doi: 10.1093/ bioinformatics/btp352 PMID: 19505943
17. Feldman AM, Begay RL, Knezevic T, Myers VD, Slavov DB, Zhu W, et al. Decreased Levels of BAG3 in a Family With a Rare Variant and in Idiopathic Dilated Cardiomyopathy. Journal of cellular physiology. 2014. Epub 2014/03/14.
18. Knezevic T, Myers VD, Gordon J, Tilley DG, Sharp TE 3rd, Wang J, et al. BAG3: a new player in the heart failure paradigm. Heart failure reviews. 2015; 20(4):423-34. Epub 2015/05/01. doi: 10.1007/ s10741-015-9487-6 PMID: 25925243
19. De Marco M, D'Auria R, Rosati A, Vitulano G, Gigantino A, Citro R, et al. BAG3 protein in advancedstage heart failure. JACC Heart failure. 2014; 2(6):673-5. Epub 2014/09/30.
20. De Marco M, Falco A, Basile A, Rosati A, Festa M, d'Avenia M, et al. Detection of soluble BAG3 and anti-BAG3 antibodies in patients with chronic heart failure. Cell death & disease. 2013; 4:e495. Epub 2013/02/16.
21. Bruch C, Gradaus R, Gunia S, Breithardt G, Wichter T. Doppler tissue analysis of mitral annular velocities: evidence for systolic abnormalities in patients with diastolic heart failure. Journal of the American Society of Echocardiography: official publication of the American Society of Echocardiography. 2003; 16(10):1031-6. Epub 2003/10/21.
22. Fatkin D, Yeoh T, Hayward CS, Benson V, Sheu A, Richmond Z, et al. Evaluation of left ventricular enlargement as a marker of early disease in familial dilated cardiomyopathy. Circulation Cardiovascular genetics. 2011; 4(4):342-8. Epub 2011/06/04. doi: 10.1161/CIRCGENETICS.110.958918 PMID: 21636824
23. De Backer J, Matthys D, Gillebert TC, De Paepe A, De Sutter J. The use of Tissue Doppler Imaging for the assessment of changes in myocardial structure and function in inherited cardiomyopathies. European journal of echocardiography: the journal of the Working Group on Echocardiography of the European Society of Cardiology. 2005; 6(4):243-50. Epub 2005/07/05.
24. Flachskampf FA, Breithardt OA, Daniel WG. [Diagnostic value of tissue Doppler parameters in the early diagnosis of cardiomyopathies]. Herz. 2007; 32(2):89-96. Epub 2007/04/03. Stellenwert des Gewebe-Dopplers in der Fruhdiagnostik von Kardiomyopathien. PMID: 17401751
25. Garnier S, Hengstenberg C, Lamblin N, Dubourg O, De Groote P, Fauchier L, et al. Involvement of BAG3 and HSPB7 loci in various etiologies of systolic heart failure: Results of a European collaboration assembling more than 2000 patients. International journal of cardiology. 2015; 189:105-7. Epub 2015/ 04/19. doi: 10.1016/j.ijcard.2015.04.003 PMID: 25889438
26. Homma S, Iwasaki M, Shelton GD, Engvall E, Reed JC, Takayama S. BAG3 deficiency results in fulminant myopathy and early lethality. The American journal of pathology. 2006; 169(3):761-73. Epub 2006/08/29. PMID: 16936253
27. van Rijsingen IA, Arbustini E, Elliott PM, Mogensen J, Hermans-van Ast JF, van der Kooi AJ, et al. Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study. Journal of the American College of Cardiology. 2012; 59(5):493-500. Epub 2012/01/28. doi: 10.1016/j. jacc.2011.08.078 PMID: 22281253
28. Hershberger RE, Morales A, Siegfried JD. Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals. Genetics in medicine: official journal of the American College of Medical Genetics. 2010; 12(11):655-67. Epub 2010/09/25.
29. Selcen D, Muntoni F, Burton BK, Pegoraro E, Sewry C, Bite AV, et al. Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Annals of neurology. 2009; 65(1):83-9. Epub 2008/12/17. doi: 10.1002/ana.21553 PMID: 19085932
30. Odgerel Z, Sarkozy A, Lee HS, McKenna C, Rankin J, Straub V, et al. Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. Neuromuscular disorders: NMD. 2010; 20(7):438-42. Epub 2010/07/08. doi: 10.1016/j.nmd.2010.05.004 PMID: 20605452
31. Hershberger RE, Siegfried JD. Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. Journal of the American College of Cardiology. 2011; 57(16):1641-9. Epub 2011/04/16. doi: 10. 1016/j.jacc.2011.01.015 PMID: 21492761