ArticleCureus2022
Bilateral Nonsyndromic Sensorineural Hearing Loss Caused by a NARS2 Mutation.
Article in Cureus, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- Compound heterozygous variants of theFrontiers in pediatrics · 2025Article
- Stroke-like lesion and status epilepticus in a child withFrontiers in neurology · 2025Article
- Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.BMC pediatrics · 2024Review
- Article
- Case Report: A new case ofFrontiers in pediatrics · 2023Article
Corrections and comments
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Authors and funding
8 authors at 1 institution.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mitochondrial diseases disrupt the process of energy generation by the mitochondria, leading to manifestations that can affect almost any organ in the body. Although various possible clinical phenotypes can result, neurological and neuromuscular affection is most frequently encountered. NARS2 encodes an enzyme responsible for the conjugation of asparagine to its cognate mitochondrial transfer ribonucleic acid (tRNA) molecule, representing an essential step necessary for effective mitochondrial protein synthesis. As such, mutations in this gene can lead to poor mitochondrial gene expression and, consequently, poor energy output resulting in disease. Pathogenic variants in NARS2 have been known to cause neurodegenerative and myopathic syndromes in combined oxidative phosphorylation deficiency 24 (COXPD24). However, nonsyndromic autosomal recessive deafness 94 (DFNB94), with which only one family is known to be affected, has also been reported concerning NARS2. Our report demonstrates the association of a new pathogenic variant in mitochondrial asparaginyl-tRNA synthetase (NARS2) with nonsyndromic sensorineural hearing loss, thus confirming biallelic mutations in NARS2 as a cause of nonsyndromic deafness.
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Registered trials
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