GATA4 loss-of-function mutation underlies familial dilated cardiomyopathy.

Highlights: [•] A novel GATA4 mutation, p.C271S, was identified in a large family with DCM. [•] The mutation co-segregated with DCM in the family and was absent in 200 controls. [•] The altered amino acid was completely conserved evolutionarily among species. [•] The mutant was associated with significantly decreased transcriptional activity. [•] The mutant remarkably reduced the synergistic activation between GATA4 and NKX2-5. [ABSTRACT FROM AUTHOR]