E-ISSN 1658-8088 | ISSN 1658-807X
 

Case Report

Online Publishing Date:
21 / 05 / 2018

 


Dilated cardiomyopathy in a child with truncating mutation in NRAP gene

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


Cited By: 1

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.

Key words: NRAP, dilated cardiomyopathy, nebulin, Whole Exome Sequencing


 
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This Article Cited By the following articles

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy
PLoS ONE 2021; 16(2): e0245681.

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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: March 13, 2024]. 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 March 13, 2024]; 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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