Visual Abstract - FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy: 10.1016/j.jacbts.2016.05.004
2019-06-13T10:59:56Z (GMT) by
• Deoxyribonucleic acid obtained from 2 large DCM families was studied using whole-exome sequencing and cosegregation analysis resulting in the identification of a novel disease gene, FLNC. The 2 families, from the same Italian region, harbored the same FLNC splice-site mutation (FLNC c.7251+1G>A).
• A third U.S. family was then identified with a novel FLNC splice-site mutation (FLNC c.5669-1delG) that leads to haploinsufficiency as shown by the FLNC Western blot analysis of the heart muscle.
• The FLNC ortholog flncb morpholino was injected into zebrafish embryos, and when flncb was knocked down caused a cardiac dysfunction phenotype.
• On electron microscopy, the flncb morpholino knockdown zebrafish heart showed defects within the Z-discs and sarcomere disorganization.