E-ISSN 1658-8088 | ISSN 1658-807X
 

Case Report
Online Published: 21 May 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


 
ARTICLE TOOLS
Abstract
PDF Fulltext
How to cite this articleHow to cite this article
Citation Tools
Related Records
 Articles by Hind Abdelrahman Ahmed
Articles by Saleh Al-ghamdi
Articles by Fuad Al Mutairi
on Google
on Google Scholar


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.

1
 
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: November 14, 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 November 14, 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





Most Viewed Articles
Most Accessed Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389

  • The role of C-terminal tensin-like (Cten) gene in cancer metastasis
    Saleh Alghamdi, Sarah Alkwai, Mohammad Ilyas
    JBCGenetics. 2018; 1(1): 2-9
    » Abstract » doi: 10.24911/JBCGenetics/183-1531548689

  • Clinical reassessment of post-laboratory variant call format (VCF) files
    Lamia Alsubaie, Saeed Alturki, Ali Alothaim, Ahmed Alfares
    JBCGenetics. 2018; 1(1): 31-36
    » Abstract » doi: 10.24911/JBCGenetics/183-1529928114

  • Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes
    AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih
    JBCGenetics. 2018; 1(1): 37-39
    » Abstract » doi: 10.24911/JBCGenetics/183-1530040885

  • Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
    Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 40-42
    » Abstract » doi: 10.24911/JBCGenetics/183-1531469195

  • Most Downloaded
    Top Downloaded Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389

  • Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing
    Kimberly A Coughlan, Rajanikanth J Maganti, Andrea Frassetto, Christine M DeAntonis, meredith Wolfrom, Anne-Renee Graham, Shawn M Hillier, Steven Fortucci, Hoor Al Jandal, Sue-Jean Hong, Paloma H Giangrande, Paolo GV Martini,
    JBCGenetics. 2019; 2(1): 28-39
    » Abstract » doi: 10.24911/JBCGenetics/183-1542047633

  • Syndactyly genes and classification: a mini review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
    JBCGenetics. 2018; 1(1): 10-18
    » Abstract » doi: 10.24911/JBCGenetics/183-1532177257

  • Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
    Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 40-42
    » Abstract » doi: 10.24911/JBCGenetics/183-1531469195

  • Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
    Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
    JBCGenetics. 2021; 4(1): 27-34
    » Abstract » doi: 10.24911/JBCGenetics/183-1601264923

  • Most Cited Articles
    Most Cited Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389
    Cited : 4 times [Click to see citing articles]

  • Syndactyly genes and classification: a mini review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
    JBCGenetics. 2018; 1(1): 10-18
    » Abstract » doi: 10.24911/JBCGenetics/183-1532177257
    Cited : 4 times [Click to see citing articles]

  • Genomics in Saudi Arabia Call for Data-Sharing Policy
    Ahmed Alfares,
    JBCGenetics. 2018; 1(2): 51-52
    » Abstract » doi: 10.24911/JBCGenetics/183-1546945268
    Cited : 4 times [Click to see citing articles]

  • Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
    Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
    JBCGenetics. 2021; 4(1): 27-34
    » Abstract » doi: 10.24911/JBCGenetics/183-1601264923
    Cited : 2 times [Click to see citing articles]

  • Harel-Yoon syndrome: the first case report from Saudi Arabia
    Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai
    JBCGenetics. 2020; 3(1): 22-27
    » Abstract » doi: 10.24911/JBCGenetics/183-1585816398
    Cited : 2 times [Click to see citing articles]