Dilated cardiomyopathy in a child with truncating mutation in NRAP gene

Hind Abdelrahman Ahmed; Saleh Al-ghamdi; Fuad Al Mutairi

doi:10.24911/JBCGenetics/183-1542267981

2023, Vol: 6, Issue: 1

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

doi: 10.24911/JBCGenetics/183-1542267981

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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Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy PLoS ONE 2021; 16(2): e0245681.	1

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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: August 15, 2023]. 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 August 15, 2023]; 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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