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Cited by 11Genomics and Rare DiseasesMetabolism and Genetic DisordersEpilepsy research and treatment

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Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review

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Yang, Nuo, Chen, Limin, Zhang, Yanfeng, Wu, Xuemei, Hao, Yunpeng, Yang, Fan, Yang, Zuozhen, Liang, Jianmin·2024·BMC Pediatrics
DOI 10.1186/s12887-024-04553-0PMC PMC10837881

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Abstract

Background: NARS2 as a member of aminoacyl-tRNA synthetases was necessary to covalently join a specific tRNA to its cognate amino acid. Biallelic variants in NARS2 were reported with disorders such as Leigh syndrome, deafness, epilepsy, and severe myopathy. Case presentation: Detailed clinical phenotypes were collected and the NARS2 variants were discovered by whole exome sequencing and verified by Sanger sequencing. Additionally, 3D protein structure visualization was performed by UCSF Chimera. The proband in our study had early-onset status epilepticus with abnormal EEG and MRI results. She also performed global developmental delay (GDD) and myocardial dysfunction. Next-generation sequencing (NGS) and Sanger sequencing revealed compound heterozygous missense variants [NM_024678.6:exon14: c.1352G > A(p.Arg451His); c.707T > C(p.Phe236Ser)] of the NARS2 gene. The proband develops refractory epilepsy with GDD and hyperlactatemia. Unfortunately, she finally died for status seizures two months later. Conclusion: We discovered two novel missense variants of NARS2 in a patient with early-onset status epilepticus and myocardial dysfunction. The NGS enables the patient to be clearly diagnosed as combined oxidative phosphorylation deficiency 24 (COXPD24, OMIM:616,239), and our findings expands the spectrum of gene variants in COXPD24.

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Metadata

Authors
Yang, N., Chen, L., Zhang, Y., Wu, X., Hao, Y., Yang, F., Yang, Z., & Liang, J.
Affiliations
  • First Hospital of Jilin University (CN)
  • Cipher Gene (China) (CN)
Corresponding author
Liang, Jianmin
ORCID
Venue
BMC Pediatrics
Publisher
Springer Science and Business Media LLC
Published
2024-02-03
Volume
24
Issue
1
Pages
96-96
ISSN
1471-2431 (ISSN-L)
DOI
10.1186/s12887-024-04553-0
PMC
PMC10837881
OpenAlex
W4391514409
Cited by
11
References
3
Citations by year
2026: 1 · 2025: 4 · 2024: 6
FWCI
2.91
Type
journal article
Language
en
Open access
Licence
Locations
  • BMC Pediatrics (publishedVersion, cc-by)
  • Research Square (acceptedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
  • the Natural Science Foundation of Jilin Province (No. YDZJ202201ZYTS090)
  • the National Nature and Science Foundation of China (No.82271509 & No.81771396)
  • the Foundation of Jilin Provincial Key Laboratory of Pediatric Neurology (No. YDZJ202102CXJD021)
  • the Project of Jilin Provincial Science and Technology Development Plan (No.YDZJ202201ZYTS676)
  • the Project of Jilin Medical and Health Talents (No.JLSWSRCZX2021053)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Health Sciences › Medicine › Clinical Neurology › Epilepsy research and treatment
Keywords
aminoacyl-tRNA synthetase, status epilepticus, drug-resistant epilepsy, compound heterozygosity, novel missense mutation, global developmental delay, cardiac dysfunction, hyperlactatemia, Leigh syndrome
MeSH terms
Drug Resistant Epilepsy, Aspartate-tRNA Ligase, Epilepsy, Female, Humans, Mutation, RNA, Transfer, Status Epilepticus, Mutation, Missense

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