Case Report
Volume: 1 | Issue: 2 | Published: May 21, 2018 | Pages: 77 - 80 | DOI: 10.24911/JBCGenetics/183-1542267981
Dilated cardiomyopathy in a child with truncating mutation in NRAP gene
Authors: Hind Abdelrahman Ahmed , Saleh Al-ghamdi , Fuad Al Mutairi
Article Info
Authors
Hind Abdelrahman Ahmed
Medical Genetics Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia
Saleh Al-ghamdi
King Abdulaziz Cardiac Center, King Abdulaziz Medical City, Riyadh, Saudi Arabia
Fuad Al Mutairi
King Abdullah International Medical Research Centre, King Saud Bin Abdulaziz, University for Health Sciences, Riyadh, Saudi Arabia
Publication History
Received: November 15, 2018
Revised: December 23, 2018
Accepted: January 21, 2019
Published: May 21, 2018
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
