Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1-associated diseases Article Swipe
Danique Beijer
,
Sheila Marte
,
Jiaxin C Li
,
Willem De Ridder
,
Jessie Z Chen
,
Abigail L. D. Tadenev
,
Kathy E. Miers
,
Tine Deconinck
,
Richard Macdonell
,
Wilson Marques
,
Peter De Jonghe
,
S. L. Pratt
,
Rebecca Meyer‐Schuman
,
Stephan Züchner
,
Anthony Antonellis
,
Robert W. Burgess
,
Jonathan Baets
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1093/braincomms/fcae070
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1093/braincomms/fcae070
Pathogenic variants in six aminoacyl-tRNA synthetase (ARS) genes are implicated in neurological disorders, most notably inherited peripheral neuropathies. ARSs are enzymes that charge tRNA molecules with cognate amino acids. Pathogenic variants in asparaginyl-tRNA synthetase (NARS1) cause a neurological phenotype combining developmental delay, ataxia and demyelinating peripheral neuropathy. NARS1 has not yet been linked to axonal Charcot–Marie–Tooth disease. Exome sequencing of patients with inherited peripheral neuropathies revealed three previously unreported heterozygous NARS1 variants in three families. Clinical and electrophysiological details were assessed. We further characterized all three variants in a yeast complementation model and used a knock-in mouse model to study variant p.Ser461Phe. All three variants (p.Met236del, p.Cys342Tyr and p.Ser461Phe) co-segregate with the sensorimotor axonal neuropathy phenotype. Yeast complementation assays show that none of the three NARS1 variants support wild-type yeast growth when tested in isolation (i.e. in the absence of a wild-type copy of NARS1), consistent with a loss-of-function effect. Similarly, the homozygous knock-in mouse model (p.Ser461Phe/Ser472Phe in mouse) also demonstrated loss-of-function characteristics. We present three previously unreported NARS1 variants segregating with a sensorimotor neuropathy phenotype in three families. Functional studies in yeast and mouse support variant pathogenicity. Thus, NARS1 is the seventh ARS implicated in dominant axonal Charcot–Marie–Tooth disease, further stressing that all dimeric ARSs should be evaluated for Charcot–Marie–Tooth disease.
Related Topics
Concepts
Complementation
Biology
Genetics
Phenotype
Tooth disease
Loss function
Compound heterozygosity
Ataxia
Exome sequencing
Mutation
Peripheral neuropathy
Gene
Neuroscience
Endocrinology
Diabetes mellitus
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1093/braincomms/fcae070
- https://academic.oup.com/braincomms/advance-article-pdf/doi/10.1093/braincomms/fcae070/56909497/fcae070.pdf
- OA Status
- gold
- Cited By
- 15
- References
- 34
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4392600773
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4392600773Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1093/braincomms/fcae070Digital Object Identifier
- Title
-
Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1-associated diseasesWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2024Year of publication
- Publication date
-
2024-01-01Full publication date if available
- Authors
-
Danique Beijer, Sheila Marte, Jiaxin C Li, Willem De Ridder, Jessie Z Chen, Abigail L. D. Tadenev, Kathy E. Miers, Tine Deconinck, Richard Macdonell, Wilson Marques, Peter De Jonghe, S. L. Pratt, Rebecca Meyer‐Schuman, Stephan Züchner, Anthony Antonellis, Robert W. Burgess, Jonathan BaetsList of authors in order
- Landing page
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https://doi.org/10.1093/braincomms/fcae070Publisher landing page
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https://academic.oup.com/braincomms/advance-article-pdf/doi/10.1093/braincomms/fcae070/56909497/fcae070.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://academic.oup.com/braincomms/advance-article-pdf/doi/10.1093/braincomms/fcae070/56909497/fcae070.pdfDirect OA link when available
- Concepts
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Complementation, Biology, Genetics, Phenotype, Tooth disease, Loss function, Compound heterozygosity, Ataxia, Exome sequencing, Mutation, Peripheral neuropathy, Gene, Neuroscience, Endocrinology, Diabetes mellitusTop concepts (fields/topics) attached by OpenAlex
- Cited by
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15Total citation count in OpenAlex
- Citations by year (recent)
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2025: 7, 2024: 8Per-year citation counts (last 5 years)
- References (count)
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34Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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