{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T20:24:36Z","timestamp":1785183876826,"version":"3.55.0"},"reference-count":16,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,4,19]],"date-time":"2023-04-19T00:00:00Z","timestamp":1681862400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>Defects in <jats:italic>FARS2<\/jats:italic> are associated with either epileptic phenotypes or a spastic paraplegia subtype known as SPG77. Here, we describe an 8-year-old patient with severe and complicated spastic paraplegia, carrying a missense variant (p.Pro361Leu) and a novel intragenic deletion in <jats:italic>FARS2.<\/jats:italic> Of note, the disease is unexpectedly progressing rapidly and in a biphasic way differently from the previously reported cases. Our study provides the first detailed molecular characterization of a <jats:italic>FARS2<\/jats:italic> deletion and its underlying molecular mechanism, and demonstrates the need for combining different tools to improve the diagnostic rate.<\/jats:p>","DOI":"10.3389\/fgene.2023.1130687","type":"journal-article","created":{"date-parts":[[2023,4,19]],"date-time":"2023-04-19T05:07:03Z","timestamp":1681880823000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia"],"prefix":"10.3389","volume":"14","author":[{"given":"Elena","family":"Panzeri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Citterio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Martinuzzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera","family":"Ancona","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Martini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Teresa","family":"Bassi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,4,19]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1016\/j.ymgme.2018.07.014","article-title":"FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance","volume":"125","author":"Almannai","year":"2018","journal-title":"Mol. 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