Key result
Homozygous truncating NRAP mutation linked to autosomal recessive DCM in a 17-month-old girl.
Why the study?
Dilated cardiomyopathy has a heterogeneous genetic background and has been linked to mutations in the NRAP gene, but clinical reports detailing these mutations are limited.
Case Report (n=1)
Biallelic deletion mutations in the NRAP gene can cause autosomal recessive dilated cardiomyopathy presenting as early as infancy.
NRAP mutations merit consideration in infantile dilated cardiomyopathy; extends genetic causes but remains hypothesis-generating.
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.
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Ahmed et al. (2018) conducted a case report in Dilated cardiomyopathy (n=1). Homozygous NRAP variant c.400-407 del p.(Cys134 Serfs*12) was evaluated on Diagnosis of dilated cardiomyopathy. A homozygous truncating mutation in the NRAP gene was identified as the cause of autosomal recessive dilated cardiomyopathy in a 17-month-old girl.
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