Alanyl-tRNA synthetase 1 gene variants in hereditary neuropathy genotype and phenotype overview

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dc.contributor.authorSetlere, Signe
dc.contributor.authorJurcenko, Marija
dc.contributor.authorGailite, Linda
dc.contributor.authorRots, Dmitrijs
dc.contributor.authorKenina, Viktorija
dc.contributor.institutionDepartment of Doctoral Studies
dc.contributor.institutionScientific Laboratory of Molecular Genetics
dc.contributor.institutionDepartment of Biology and Microbiology
dc.date.accessioned2023-02-27T10:00:01Z
dc.date.available2023-02-27T10:00:01Z
dc.date.issued2022-10-05
dc.descriptionFunding Information: This research is funded by Latvian Science Council, Project Discovering biomarkers of disease progression and variability in Charcot-Marie-Tooth neuropathy, No lzp-2021/1-0327. Funding Information: The Article Processing Charge was funded by Fundamental and Applied Research Project, lzp-2021/1-0327. Publisher Copyright: Copyright © 2022 The Author(s).
dc.description.abstractBackground and Objectives Our objective was to report 2 novel variants and to reclassify previously reported alanyl-tRNA synthetase 1 (AARS1) variants associated with hereditary neuropathy and to summarize the clinical features of a previously published cohort of patients. Methods We performed detailed neurologic and electrophysiologic assessments and segregation analysis of 2 unrelated families with Charcot-Marie-Tooth (CMT) disease with novel variants in the AARS1 gene. Via literature search, we found studies that included neuropathy cases with AARS1 variants; we then reviewed and reclassified these variants. Results We identified 2 CMT families harboring previously unreported likely pathogenic AARS1 variants: c.1823C>A p.(Thr608Lys) and c.1815C>G p.(His605Gln). In addition, we reinterpreted a total of 35 different AARS1 variants reported in cases with neuropathy from the literature: 9 variants fulfilled the current criteria for being (likely) pathogenic. We compiled and summarized standardized clinical and genotypic information for 90 affected individuals from 32 families with (likely) pathogenic AARS1 variants. Most experienced motor weakness and sensory loss in the lower limbs. Discussion In total, 11 AARS1 variants can currently be classified as pathogenic or likely pathogenic and are associated with sensorimotor axonal or intermediate, slowly progressive polyneuropathy with common asymmetry and variable age of symptom onset with no apparent involvement of other organ systems.en
dc.description.statusPeer reviewed
dc.format.extent508971
dc.identifier.citationSetlere, S, Jurcenko, M, Gailite, L, Rots, D & Kenina, V 2022, 'Alanyl-tRNA synthetase 1 gene variants in hereditary neuropathy genotype and phenotype overview', Neurology: Genetics, vol. 8, no. 5, e200019. https://doi.org/10.1212/NXG.0000000000200019
dc.identifier.doi10.1212/NXG.0000000000200019
dc.identifier.issn2376-7839
dc.identifier.urihttps://dspace.rsu.lv/jspui/handle/123456789/10646
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85140253668&partnerID=8YFLogxK
dc.language.isoeng
dc.relation.ispartofNeurology: Genetics
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subject3.2 Clinical medicine
dc.subject3.1 Basic medicine
dc.subject1.1. Scientific article indexed in Web of Science and/or Scopus database
dc.subjectClinical Neurology
dc.subjectGenetics(clinical)
dc.titleAlanyl-tRNA synthetase 1 gene variants in hereditary neuropathy genotype and phenotype overviewen
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article

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