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
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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
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: June 27, 2022]. doi:10.24911/JBCGenetics/183-1542267981
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
Ahmed HA, Al-ghamdi S, Mutairi FA. Dilated cardiomyopathy in a child with truncating mutation in NRAP gene. JBCGenetics. (2018), [cited June 27, 2022]; 1(2): 77-80. doi:10.24911/JBCGenetics/183-1542267981
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
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
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
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
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