Dilated cardiomyopathy associated with NRAP gene: a case series
Abdellh A. Names, Mohammed A. Tohary, Basel A. Hadad, Abdurahman H. Alhazmi, Hamad M. Alaksham, Hassan M. Gohal, Ghadah M. Gosadi, Ali A. Awaji, Mohammad A. Jareebi.
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.
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