FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy
oleh: Rene L. Begay, BS, Charles A. Tharp, MD, August Martin, Sharon L. Graw, PhD, Gianfranco Sinagra, MD, Daniela Miani, MD, Mary E. Sweet, BA, Dobromir B. Slavov, PhD, Neil Stafford, MD, Molly J. Zeller, Rasha Alnefaie, Teisha J. Rowland, PhD, Francesca Brun, MD, Kenneth L. Jones, PhD, Katherine Gowan, Luisa Mestroni, MD, Deborah M. Garrity, PhD, Matthew R.G. Taylor, MD, PhD
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2016-08-01 |
Deskripsi
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.