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FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy

Publication ,  Journal Article
Begay, RL; Tharp, CA; Martin, A; Graw, SL; Sinagra, G; Miani, D; Sweet, ME; Slavov, DB; Stafford, N; Zeller, MJ; Alnefaie, R; Rowland, TJ ...
Published in: JACC: Basic to Translational Science
August 1, 2016

A genetic etiology has been identified in 30% to 40% of dilated cardiomyopathy (DCM) patients, yet only 50% of these cases are associated with a known causative gene variant. Thus, in order to understand the pathophysiology of DCM, it is necessary to identify and characterize additional genes. In this study, whole exome sequencing in combination with segregation analysis was used to identify mutations in a novel gene, filamin C (FLNC), resulting in a cardiac-restricted DCM pathology. Here we provide functional data via zebrafish studies and protein analysis to support a model implicating FLNC haploinsufficiency as a mechanism of DCM.

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Published In

JACC: Basic to Translational Science

DOI

ISSN

2452-302X

Publication Date

August 1, 2016

Volume

1

Issue

5

Start / End Page

344 / 359

Related Subject Headings

  • 3201 Cardiovascular medicine and haematology
  • 1103 Clinical Sciences
  • 1102 Cardiorespiratory Medicine and Haematology
 

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Begay, R. L., Tharp, C. A., Martin, A., Graw, S. L., Sinagra, G., Miani, D., … Taylor, M. R. G. (2016). FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy. JACC: Basic to Translational Science, 1(5), 344–359. https://doi.org/10.1016/j.jacbts.2016.05.004
Begay, R. L., C. A. Tharp, A. Martin, S. L. Graw, G. Sinagra, D. Miani, M. E. Sweet, et al. “FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy.” JACC: Basic to Translational Science 1, no. 5 (August 1, 2016): 344–59. https://doi.org/10.1016/j.jacbts.2016.05.004.
Begay RL, Tharp CA, Martin A, Graw SL, Sinagra G, Miani D, et al. FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy. JACC: Basic to Translational Science. 2016 Aug 1;1(5):344–59.
Begay, R. L., et al. “FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy.” JACC: Basic to Translational Science, vol. 1, no. 5, Aug. 2016, pp. 344–59. Scopus, doi:10.1016/j.jacbts.2016.05.004.
Begay RL, Tharp CA, Martin A, Graw SL, Sinagra G, Miani D, Sweet ME, Slavov DB, Stafford N, Zeller MJ, Alnefaie R, Rowland TJ, Brun F, Jones KL, Gowan K, Mestroni L, Garrity DM, Taylor MRG. FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy. JACC: Basic to Translational Science. 2016 Aug 1;1(5):344–359.
Journal cover image

Published In

JACC: Basic to Translational Science

DOI

ISSN

2452-302X

Publication Date

August 1, 2016

Volume

1

Issue

5

Start / End Page

344 / 359

Related Subject Headings

  • 3201 Cardiovascular medicine and haematology
  • 1103 Clinical Sciences
  • 1102 Cardiorespiratory Medicine and Haematology