FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy

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 th...

Descripción completa

Detalles Bibliográficos
Autores principales: Begay, Rene L., Tharp, Charles A., Martin, August, Graw, Sharon L., Sinagra, Gianfranco, Miani, Daniela, Sweet, Mary E., Slavov, Dobromir B., Stafford, Neil, Zeller, Molly J., Alnefaie, Rasha, Rowland, Teisha J., Brun, Francesca, Jones, Kenneth L., Gowan, Katherine, Mestroni, Luisa, Garrity, Deborah M., Taylor, Matthew R.G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
PRE-CLINICAL RESEARCH
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5166708/
https://www.ncbi.nlm.nih.gov/pubmed/28008423
http://dx.doi.org/10.1016/j.jacbts.2016.05.004
Descripción
Sumario: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.

Ejemplares similares