{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T20:23:20Z","timestamp":1787948600988,"version":"build-2784847793"},"reference-count":41,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T00:00:00Z","timestamp":1764201600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of University and Research","award":["2022XTM2S3"],"award-info":[{"award-number":["2022XTM2S3"]}]},{"name":"Italian Ministry of University and Research","award":["CUP H53D23005530006"],"award-info":[{"award-number":["CUP H53D23005530006"]}]},{"name":"PRIN PNRR 2022\u2014European Union\u2019s NextGenerationEU initiative","award":["P20225J5NB"],"award-info":[{"award-number":["P20225J5NB"]}]},{"name":"PRIN PNRR 2022\u2014European Union\u2019s NextGenerationEU initiative","award":["CUP H53D23008990001"],"award-info":[{"award-number":["CUP H53D23008990001"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>VPS13A disease is a rare, autosomal-recessive, neurodegenerative disorder characterized by involuntary movements, orofacial dystonia, seizures, psychiatric symptoms, and the presence of spiky, deformed red blood cells (acanthocytes). The disease is caused by mutations in the VPS13A gene, which encodes the VPS13A protein (previously known as chorein). This protein is a member of the family of bridge-like lipid transport proteins, involved in bulk lipid transfer between membranes and intracellular vesicle trafficking. We describe the case of a 37-year-old woman with gait instability, semi-flexed legs, and involuntary distal muscle movements. Genetic testing was performed using next-generation sequencing (NGS), followed by molecular analysis. Fibroblasts from the patient, her mother, and a healthy control were analyzed by immunofluorescence and Western blotting. NGS identified a novel homozygous 2.8 kb deletion encompassing exons 69\u201370 (69\u201370del) of the VPS13A gene (NM_033305.3). The same variant was detected in the patient\u2019s mother in a heterozygous state and her brother in a homozygous state. Although other deletions in the gene have been described, a comprehensive search of population variant databases and the existing literature did not reveal previous reports of this deletion. Fibroblasts from the patient, her mother and a healthy control were characterized. Functional assays showed a complete absence of the VPS13A protein in the patient\u2019s fibroblasts. This study expands the mutational spectrum of VPS13A-linked VPS13A disease and underlines the importance of comprehensive genetic analysis in atypical cases.<\/jats:p>","DOI":"10.3390\/ijms262311521","type":"journal-article","created":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T16:31:52Z","timestamp":1764261112000},"page":"11521","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Novel VPS13A Deletion in VPS13A Disease (Chorea-Acanthocytosis): A Case Report with Brief Literature Summary"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9255-7492","authenticated-orcid":false,"given":"Benedetta","family":"Perrone","sequence":"first","affiliation":[{"name":"Laboratory of Medical Genetics, Department of Pharmacy and Health and Nutritional Sciences, University of Calabria, Rende, 87036 Cosenza, Italy"},{"name":"Health Center, Department of Pharmacy and Health and Nutritional Sciences, University of Calabria, Rende, 87036 Cosenza, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-1335-9389","authenticated-orcid":false,"given":"Viviana","family":"Mosca","sequence":"additional","affiliation":[{"name":"Lab of Neurochemistry, Department of Biomedicine, Neurosciences, and Advanced Diagnostics (Bi.N.D.), University of Palermo, 90127 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8270-6506","authenticated-orcid":false,"given":"Martina","family":"Pecoraro","sequence":"additional","affiliation":[{"name":"Lab of Neurochemistry, Department of Biomedicine, Neurosciences, and Advanced Diagnostics (Bi.N.D.), University of Palermo, 90127 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6246-5901","authenticated-orcid":false,"given":"Paola","family":"Ruffo","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Department of Pharmacy and Health and Nutritional Sciences, University of Calabria, Rende, 87036 Cosenza, Italy"},{"name":"Health Center, Department of Pharmacy and Health and Nutritional Sciences, University of Calabria, Rende, 87036 Cosenza, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elda Del","family":"Giudice","sequence":"additional","affiliation":[{"name":"R&I Genetics Srl, 35127 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberta","family":"Leon","sequence":"additional","affiliation":[{"name":"R&I Genetics Srl, 35127 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Maino","sequence":"additional","affiliation":[{"name":"R&I Genetics Srl, 35127 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2045-1864","authenticated-orcid":false,"given":"Vincenzo","family":"La Bella","sequence":"additional","affiliation":[{"name":"Lab of Neurochemistry, Department of Biomedicine, Neurosciences, and Advanced Diagnostics (Bi.N.D.), University of Palermo, 90127 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rossella","family":"Spataro","sequence":"additional","affiliation":[{"name":"Intensive Neurorehabilitation Unit, Villa delle Ginestre Hospital, ASP Palermo, 90141 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8364-1783","authenticated-orcid":false,"given":"Francesca Luisa","family":"Conforti","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Department of Pharmacy and Health and Nutritional Sciences, University of Calabria, Rende, 87036 Cosenza, Italy"},{"name":"Health Center, Department of Pharmacy and Health and Nutritional Sciences, University of Calabria, Rende, 87036 Cosenza, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,11,27]]},"reference":[{"key":"ref_1","unstructured":"Adam, M.P., Feldman, J., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., and Amemiya, A. 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