Case Report
Volume: 6 | Issue: 1 | Published: Feb 25, 2023 | Pages: 70 - 74 | DOI: 10.24911/JBCGenetics/183-1668575222
Dilated cardiomyopathy associated with NRAP gene: a case series
Authors:
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
Article Info
Authors
Abdellh A. Names
Medical student, Jazan University, Jazan, Saudi Arabi
Mohammed A. Tohary
Consultant Medical Genetic and Metabolic Disorders, Prince Mohammed Bin Nasser Hospital, Jazan, Saudi Arabia
Basel A. Hadad
Consultant Pediatric Cardiologist, Prince Mohammed Bin Nasser Hospital, Jazan, Saudi Arabia
Abdurahman H. Alhazmi
Consultant Pediatric Cardiologist, Prince Mohammed Bin Nasser Hospital, Jazan, Saudi Arabia
Hamad M. Alaksham
Consultant Pediatric Cardiologist, Prince Mohammed Bin Nasser Hospital, Jazan, Saudi Arabia
Hassan M. Gohal
Consultant Pediatric Intensive Care, Prince Mohammed Bin Nasser Hospital, Jazan, Saudi Arabia
Ghadah M. Gosadi
Consultant Medical Genetic and Metabolic Disorders, Prince Mohammed Bin Nasser Hospital, Jazan, Saudi Arabia
Ali A. Awaji
Consultant Medical Genetic and Metabolic Disorders, Prince Mohammed Bin Nasser Hospital, Jazan, Saudi Arabia
Publication History
Received: November 16, 2022
Revised: January 18, 2023
Accepted: January 24, 2023
Published: February 25, 2023
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.
Keywords: NRAP gene, heart failure, cardiomyopathies, DCM, genetics
Pubmed Style
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. Dilated cardiomyopathy associated with NRAP gene: a case series. JBC Genetics. 2023; 25 (February 2023): 70-74. doi:10.24911/JBCGenetics/183-1668575222
Web Style
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. Dilated cardiomyopathy associated with NRAP gene: a case series. https://www.jbcgenetics.com/index.php/articles/2084 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1668575222
AMA (American Medical Association) Style
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. Dilated cardiomyopathy associated with NRAP gene: a case series. JBC Genetics. 2023; 25 (February 2023): 70-74. doi:10.24911/JBCGenetics/183-1668575222
Vancouver/ICMJE Style
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. Dilated cardiomyopathy associated with NRAP gene: a case series. JBC Genetics. (2023), [cited April 27, 2025]; 25 (February 2023): 70-74. doi:10.24911/JBCGenetics/183-1668575222
Harvard Style
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 (2023) Dilated cardiomyopathy associated with NRAP gene: a case series. JBC Genetics, 25 (February 2023): 70-74. doi:10.24911/JBCGenetics/183-1668575222
Chicago Style
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. "Dilated cardiomyopathy associated with NRAP gene: a case series." 25 (2023), 70-74. doi:10.24911/JBCGenetics/183-1668575222
MLA (The Modern Language Association) Style
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. "Dilated cardiomyopathy associated with NRAP gene: a case series." 25.February 2023 (2023), 70-74. Print. doi:10.24911/JBCGenetics/183-1668575222
APA (American Psychological Association) Style
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 (2023) Dilated cardiomyopathy associated with NRAP gene: a case series. , 25 (February 2023), 70-74. doi:10.24911/JBCGenetics/183-1668575222