A novel SPAST gene splicing variant (c.1617-2A>C) in a heterozygous carrier with hereditary spastic paraplegia.
| Autor: | Sbragia E; Unit of Neurology, Galliera Hospital, Genoa, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal-Child Health, University of Genoa, Genoa, Italy., Assini A; Unit of Neurology, Galliera Hospital, Genoa, Italy., Calzavara S; Laboratory of Clinical Molecular Genetics, IRCCS Ospedale San Raffaele, Milan, Italy., Carrera P; Laboratory of Clinical Molecular Genetics, IRCCS Ospedale San Raffaele, Milan, Italy.; Unit of Genomics for Diagnosis of Genetic Diseases, IRCCS Ospedale San Raffaele, Milan, Italy., Solaro CM; Unit of Neurology, Galliera Hospital, Genoa, Italy., Di Maria E; Department of Health Sciences, University of Genoa, Genoa, Italy.; University Unit of Medical Genetics, Galliera Hospital, Genoa, Italy. |
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| Jazyk: | angličtina |
| Zdroj: | ENeurologicalSci [eNeurologicalSci] 2024 May 29; Vol. 35, pp. 100506. Date of Electronic Publication: 2024 May 29 (Print Publication: 2024). |
| DOI: | 10.1016/j.ensci.2024.100506 |
| Abstrakt: | Hereditary spastic paraplegia (HSP) is a group of genetically heterogenous neurodegenerative disorders characterized by progressive spasticity and weakness of lower limbs. We report a novel splicing variant (c.1617-2A>C) of the SPAST gene in a heterozygous carrier from an Italian family with autosomal dominant HSP. The case study describes a pure form of spastic paraparesis with the cardinal clinical features of SPG4. The novel variant affects a canonical splice site and is likely to disrupt RNA splicing. We conclude that the c.1617-2A>C substitution is a null variant, which could be classified as pathogenic; its penetrance should be further investigated. Competing Interests: None to declare. (© 2024 The Author(s). Published by Elsevier B.V.) |
| Databáze: | MEDLINE |
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