ArticleAnnals of clinical and translational neurology2024
A pseudo-homozygous missense variant and Alu-mediated exon 5 deletion in FARS2 causing spastic paraplegia 77.
Shu-Huai Lin, Jun-Hao Xie, Jun-Yi Jiang, Xin-Yu Yan, Chao-Yin Hong, Wan-Jin Chen, Ning Wang, Xiang Lin
Abstract readCase Reports
In one paragraphArticle in Annals of clinical and translational neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Shu-Huai Lin *Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China.
Jun-Hao Xie *Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China.
Jun-Yi Jiang *Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China.
Xin-Yu YanDepartment of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China.
Chao-Yin HongDepartment of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China.
Wan-Jin ChenDepartment of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China.ORCID 0000-0002-9472-8494 Ning WangDepartment of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China.ORCID 0000-0002-9655-9735 Xiang LinDepartment of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China.ORCID 0000-0002-1449-0114 Funding
Excellent Youth Training Program of the First Affiliated Hospital of Fujian Medical University 2023FY-JCQN-1Fujian Provincial Health Technology Project 2022ZQNZD003Fujian Research and Training Grants for Young and Middle-aged Leaders in HealthcareLocal Science and Technology Development Project guided by the central government grants 2022L3011National Natural Science Foundation of China 82171403National Natural Science Foundation of China 82222022National Natural Science Foundation of China U2005201
6 · The paper itselfAbstract
FARS2-associated hereditary spastic paraplegia, later onset spastic paraplegia type 77, is a rarely neurodegenerative disease. Here, we reported two affected siblings in an autosomal recessive spastic paraplegia family with a pseudo-homozygous missense variant and Alu-mediated exon 5 deletion in FARS2. Both patients gradually developed altered gaits and weakness in both lower limbs. In our literature review, spastic paraplegia type 77 shows high heterogeneity in clinical manifestations. Our study broadens the scope of pathogenic mechanisms of SPG77 resulting from compound heterozygous mutations in FARS2 and provides strong evidence that deletion in FARS2 due to recombination event mediated by Alu element.
Indexed as
Alu ElementsExonsMutation, MissenseSpastic Paraplegia, HereditaryAdultFemaleHumansMaleMitochondrial ProteinsPedigreePhenylalanine-tRNA LigaseSequence DeletionFARS2 protein, humanMitochondrial ProteinsPhenylalanine-tRNA Ligase
Identifiers
PMID39342436
PMCPMC11572740
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