ReviewMolecular genetics & genomic medicine2020
Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration.
Review in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 13 citations in OpenAlex.
- Early Onset Dystonia, Parkinsonism, and Spasticity in Siblings with VAC14-Associated Neurodegeneration: A Case Report and Literature Review.Movement disorders clinical practice · 2026Article
- Expanding the Phenotypic Horizon of VAC14-Related Neurodegeneration.Movement disorders clinical practice · 2025Article
- VAC14 oligomerization is essential for the function of the FAB1/PIKfyve-VAC14-FIG4 complex.Molecular biology of the cell · 2025Article
- Blepharoclonus - a novel phenotypic association with a VAC14 variant.Clinical parkinsonism & related disorders · 2025Article
- Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome.Genetics in medicine open · 2024Article
- Detection of respiratory pathogenic bacterial nucleic acid detection by Loop-mediated Isothermal Amplification in patients with bacterial pulmonary infections.Practical laboratory medicine · 2023Article
- Unmistakable Truncal Dystonia Mistaken as Psychogenic: A Case Report of VAC14-Related Neurodegeneration.Movement disorders clinical practice · 2023Article
- Roles of PIKfyve in multiple cellular pathways.Current opinion in cell biology · 2022Review
- Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration.Molecular genetics & genomic medicine · 2020Review
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6 authors at 2 institutions in 1 country.
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Abstract
backgroundVAC14 is a component of a trimolecular complex that tightly regulates the level of phosphatidylinositol 3,5-bisphosphate [PI (3,5) P2]. VAC14 pathogenic variants cause prominent vacuolation of neurons in basal ganglia of patients with childhood-onset striatonigral degeneration (SNDC).
methodsWe identified two siblings with SNDC. Whole-exome sequencing was performed for genetic molecular analysis in these probands.
resultsThe patients were compound heterozygotes for two novel variants in the VAC14 gene, p.Ala582Thr and p.Arg681His. The pathogenicity of these variants was indicated by a bioinformatic study and protein three-dimensional modeling. Eight previously reported SNDC cases and a Yunis-Varón syndrome caused by VAC14 mutations were summarized and compared.
conclusionWe present novel compound heterozygous variants (c.1744G>A/c.2042G>A) in our proband, and these novel variants were predicted to be likely pathogenic. The affected siblings were clinically severe and lethal; their phenotypes were similar to the majority of previously reported SNDC cases, with the exception of two cases that showed mild clinical manifestations. VAC14 pathogenic variants may be associated with various phenotypes. Herein, we report the Chinese siblings with SNDC, they are the first Asian cases. Our results expanded the spectrum of VAC14 pathogenic variants and the ethnic backgrounds of the affected cases.
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