Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia
Defects in FARS2 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 FARS2. Of note, the di...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-04-01
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| Series: | Frontiers in Genetics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1130687/full |
| _version_ | 1797844288384532480 |
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| author | Elena Panzeri Andrea Citterio Andrea Martinuzzi Vera Ancona Eleonora Martini Maria Teresa Bassi |
| author_facet | Elena Panzeri Andrea Citterio Andrea Martinuzzi Vera Ancona Eleonora Martini Maria Teresa Bassi |
| author_sort | Elena Panzeri |
| collection | DOAJ |
| description | Defects in FARS2 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 FARS2. 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 FARS2 deletion and its underlying molecular mechanism, and demonstrates the need for combining different tools to improve the diagnostic rate. |
| first_indexed | 2024-04-09T17:19:52Z |
| format | Article |
| id | doaj.art-d1651d958e604e81904776e34464c1ac |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-09T17:19:52Z |
| publishDate | 2023-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-d1651d958e604e81904776e34464c1ac2023-04-19T05:06:49ZengFrontiers Media S.A.Frontiers in Genetics1664-80212023-04-011410.3389/fgene.2023.11306871130687Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegiaElena Panzeri0Andrea Citterio1Andrea Martinuzzi2Vera Ancona3Eleonora Martini4Maria Teresa Bassi5Laboratory of Molecular Biology, Scientific Institute IRCCS E. Medea, Bosisio Parini, ItalyLaboratory of Molecular Biology, Scientific Institute IRCCS E. Medea, Bosisio Parini, ItalyDepartment of Neurorehabilitation, Scientific Institute IRCCS E. Medea, Conegliano, ItalyDepartment of Neurorehabilitation, Scientific Institute IRCCS E. Medea, Conegliano, ItalyDepartment of Neurorehabilitation, Scientific Institute IRCCS E. Medea, Conegliano, ItalyLaboratory of Molecular Biology, Scientific Institute IRCCS E. Medea, Bosisio Parini, ItalyDefects in FARS2 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 FARS2. 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 FARS2 deletion and its underlying molecular mechanism, and demonstrates the need for combining different tools to improve the diagnostic rate.https://www.frontiersin.org/articles/10.3389/fgene.2023.1130687/fullcomplicated spastic paraplegiaFARS2deletionSPG77severe |
| spellingShingle | Elena Panzeri Andrea Citterio Andrea Martinuzzi Vera Ancona Eleonora Martini Maria Teresa Bassi Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia Frontiers in Genetics complicated spastic paraplegia FARS2 deletion SPG77 severe |
| title | Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia |
| title_full | Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia |
| title_fullStr | Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia |
| title_full_unstemmed | Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia |
| title_short | Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia |
| title_sort | case report a novel fars2 deletion and a missense variant in a child with complicated rapidly progressive spastic paraplegia |
| topic | complicated spastic paraplegia FARS2 deletion SPG77 severe |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2023.1130687/full |
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