Abstract

Background: The genetic basis of dilated cardiomyopathy (DCM) is highly diverse, with over 100 known genes and several possibilities described. Nebulin-related-anchoring protein (NRAP) is an action-binding cytoskeletal protein that has a role in the myofibrillar assembly in the embryonic heart. It is primarily generated in striated and cardiac muscles.
Case Presentation: We described three cases of DCM that were related to NRAP gene mutations [NM_001261463.1: c.3568G > T; p. (Glu1190*)].
Conclusion: Our data imply that biallelic nonsense mutations in the NRAP might be a genetic risk factor with limited penetrance and induce DCM at various ages.

Key words: NRAP gene, heart failure, cardiomyopathies, DCM, genetics.