Case Report
JBCGenetics. 2018; 1(2): 77-80

Dilated cardiomyopathy in a child with truncating mutation in NRAP gene

Authors: Hind Abdelrahman Ahmed, Saleh Al-ghamdi, Fuad Al Mutairi.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1542267981

Abstract

Background: Dilated cardiomyopathy (DCM) is a progressive, lethal disorder that has heterogeneous genetic background. It has been linked to mutations in Nebulin-related-anchoring protein (NRAP) gene. NRAP expressed mainly in striated and cardiac muscles, and it plays substantial role in the sarcomeric contraction cycle and myofibrillogenesis. Case Presentation: A 17-month-old baby girl presented at the age of 13 months with symptoms of heart failure. She was diagnosed as a case of dilated cardiomyopathy. Using whole exome sequencing, diagnosis is confirmed due to homozygous NRAP variant c.400-407 del p.(Cys134 Serfs*12), which create premature stop codon. Conclusion: This case report supports preceding reports that biallelic deletion mutations in NRAP gene cause an autosomal recessive DCM with low penetrance genetic risk factor. However, the age of presentation can vary from early infancy up to adulthood.

Keywords:   NRAP, dilated cardiomyopathy, nebulin, Whole Exome Sequencing


© Copyright: Author(s)

Dilated cardiomyopathy in a child with truncating mutation in NRAP gene


Authors
Hind Abdelrahman Ahmed
Medical Genetics Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Saleh Al-ghamdi
King Abdulaziz Cardiac Center, King Abdulaziz Medical City, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Fuad Al Mutairi
King Abdullah International Medical Research Centre, King Saud Bin Abdulaziz, University for Health Sciences, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles


Correspondence to:
. Fuad Al Mutairi, King Abdullah International Medical Research Centre, King Saud Bin Abdulaziz, University for Health Sciences, Riyadh, Saudi Arabia; almutairifu@NGHA.MED.SA

Publication history
Received 15 Nov 2018
Revised 23 Dec 2018
Accepted 21 Jan 2019
Published in print 09 Mar 2019

How to cite this article

Pubmed Style

Ahmed HA, Al-ghamdi S, Mutairi FA. Dilated cardiomyopathy in a child with truncating mutation in NRAP gene. JBCGenetics. 2018; 1(2): 77-80. doi:10.24911/JBCGenetics/183-1542267981


Web Style

Ahmed HA, Al-ghamdi S, Mutairi FA. Dilated cardiomyopathy in a child with truncating mutation in NRAP gene. https://www.jbcgenetics.com//?mno=17290 [Access: December 08, 2021]. doi:10.24911/JBCGenetics/183-1542267981


AMA (American Medical Association) Style

Ahmed HA, Al-ghamdi S, Mutairi FA. Dilated cardiomyopathy in a child with truncating mutation in NRAP gene. JBCGenetics. 2018; 1(2): 77-80. doi:10.24911/JBCGenetics/183-1542267981


Vancouver/ICMJE Style

Ahmed HA, Al-ghamdi S, Mutairi FA. Dilated cardiomyopathy in a child with truncating mutation in NRAP gene. JBCGenetics. (2018), [cited December 08, 2021]; 1(2): 77-80. doi:10.24911/JBCGenetics/183-1542267981


Harvard Style

Ahmed, H. A., Al-ghamdi, . S. & Mutairi, . F. A. (2018) Dilated cardiomyopathy in a child with truncating mutation in NRAP gene. JBCGenetics, 1 (2), 77-80. doi:10.24911/JBCGenetics/183-1542267981


Turabian Style

Ahmed, Hind Abdelrahman, Saleh Al-ghamdi, and Fuad Al Mutairi. 2018. Dilated cardiomyopathy in a child with truncating mutation in NRAP gene. Journal of Biochemical and Clinical Genetics, 1 (2), 77-80. doi:10.24911/JBCGenetics/183-1542267981


Chicago Style

Ahmed, Hind Abdelrahman, Saleh Al-ghamdi, and Fuad Al Mutairi. "Dilated cardiomyopathy in a child with truncating mutation in NRAP gene." Journal of Biochemical and Clinical Genetics 1 (2018), 77-80. doi:10.24911/JBCGenetics/183-1542267981


MLA (The Modern Language Association) Style

Ahmed, Hind Abdelrahman, Saleh Al-ghamdi, and Fuad Al Mutairi. "Dilated cardiomyopathy in a child with truncating mutation in NRAP gene." Journal of Biochemical and Clinical Genetics 1.2 (2018), 77-80. Print. doi:10.24911/JBCGenetics/183-1542267981


APA (American Psychological Association) Style

Ahmed, H. A., Al-ghamdi, . S. & Mutairi, . F. A. (2018) Dilated cardiomyopathy in a child with truncating mutation in NRAP gene. Journal of Biochemical and Clinical Genetics, 1 (2), 77-80. doi:10.24911/JBCGenetics/183-1542267981


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