Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers.
Job A J VerdonschotEmma Louise RobinsonKiely N JamesMohamed W MohamedGodelieve R F ClaesKari CasasEls K VanhoutteMark R HazebroekGabriel KringlenMichele M PasierbArthur van den WijngaardJan F C GlatzStephane R B HeymansIngrid P C KrapelsShareef NahasHan G BrunnerRadek SzklarczykPublished in: Molecular genetics & genomic medicine (2019)
Heterozygous PDLIM5 variants are rare and therefore will not have a major contribution in DCM. Although they likely play a role in disease development as this gene plays a major role in contracting cardiomyocytes and homozygous variants lead to early-onset cardiac disease. Other environmental and/or genetic factors are probably necessary to unveil the cardiac phenotype in PDLIM5 mutation carriers.