Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers

ConclusionsHeterozygousPDLIM5 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 inPDLIM5 mutation carriers.

Source: Molecular Genetics & Genomic Medicine - December 26, 2019 Category: Genetics & Stem Cells Authors: Job A. J. Verdonschot, Emma L. Robinson, Kiely N. James, Mohamed W. Mohamed, Godelieve R. F. Claes, Kari Casas, Els K. Vanhoutte, Mark R. Hazebroek, Gabriel Kringlen, Michele M. Pasierb, Arthur Wijngaard, Jan F. C. Glatz, Stephane R. B. Heyman Tags: ORIGINAL ARTICLE Source Type: research