Dilated cardiomyopathy associated with NRAP gene: a case series
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 i...
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| Format: | Article |
| Language: | English |
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Discover STM Publishing Ltd
2023-06-01
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| Series: | Journal of Biochemical and Clinical Genetics |
| Subjects: | |
| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=130301 |
| _version_ | 1797816596414070784 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Abdellh A. Names |
| collection | DOAJ |
| description | 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. [JBCGenetics 2023; 6(1.000): 70-74] |
| first_indexed | 2024-03-13T08:41:00Z |
| format | Article |
| id | doaj.art-5708909fb0284996b63964e73718f6b7 |
| institution | Directory Open Access Journal |
| issn | 1658-807X |
| language | English |
| last_indexed | 2024-03-13T08:41:00Z |
| publishDate | 2023-06-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj.art-5708909fb0284996b63964e73718f6b72023-05-30T11:51:12ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X2023-06-0161707410.24911/JBCGenetics/183-1668575222130301Dilated cardiomyopathy associated with NRAP gene: a case seriesAbdellh A. Names0Mohammed A. Tohary1Basel A. Hadad2Abdurahman H. Alhazmi3Hamad M. Alaksham4Hassan M. Gohal5Ghadah M. Gosadi6Ali A. Awaji7Mohammad A. Jareebi8Medical student, Jazan University, Jazan, Saudi Arabi Consultant Medical Genetic and Metabolic Disorders, Prince Mohammed Bin Nasser Hospital, Jazan, Saudi Arabia Consultant Pediatric Cardiologist, Prince Mohammed Bin Nasser Hospital, Jazan, Saudi Arabia Consultant Pediatric Cardiologist, Prince Mohammed Bin Nasser Hospital, Jazan, Saudi Arabia Consultant Pediatric Cardiologist, Prince Mohammed Bin Nasser Hospital, Jazan, Saudi Arabia Consultant Pediatric Intensive Care, Prince Mohammed Bin Nasser Hospital, Jazan, Saudi Arabia Consultant Medical Genetic and Metabolic Disorders, Prince Mohammed Bin Nasser Hospital, Jazan, Saudi Arabia Consultant Medical Genetic and Metabolic Disorders, Prince Mohammed Bin Nasser Hospital, Jazan, Saudi Arabia Lecturer, Jazan University, Jazan, Saudi Arabia.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. [JBCGenetics 2023; 6(1.000): 70-74]http://www.ejmanager.com/fulltextpdf.php?mno=130301nrap geneheart failurecardiomyopathiesdcmgenetics |
| spellingShingle | 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 Journal of Biochemical and Clinical Genetics nrap gene heart failure cardiomyopathies dcm genetics |
| title | Dilated cardiomyopathy associated with NRAP gene: a case series |
| title_full | Dilated cardiomyopathy associated with NRAP gene: a case series |
| title_fullStr | Dilated cardiomyopathy associated with NRAP gene: a case series |
| title_full_unstemmed | Dilated cardiomyopathy associated with NRAP gene: a case series |
| title_short | Dilated cardiomyopathy associated with NRAP gene: a case series |
| title_sort | dilated cardiomyopathy associated with nrap gene a case series |
| topic | nrap gene heart failure cardiomyopathies dcm genetics |
| url | http://www.ejmanager.com/fulltextpdf.php?mno=130301 |
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