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- Title
TOR2A Variants in Blepharospasm.
- Authors
Saeirad, Samira; LeDoux, Mark S.
- Abstract
Background: Genetic factors have been implicated in the pathogenesis of blepharospasm (BSP), a dystonia characterized by excessive blinking and involuntary eyelid closure. Previous research identified a co-segregating deleterious TOR2A variant (GRCh38/hg38, NC_000009.12: g.127733410G>A, NM_001085347.3:c.568C>T, p. Arg190Cys) in three subjects with BSP and three carriers within a multi-generation pedigree. Other TOR2A variants have been reported in patients with dystonia. Methods: Sanger sequencing was used to screen a cohort of 307 subjects with isolated BSP or BSP-plus dystonia affecting additional anatomical segments (BSP+). We also utilized computational tools to uniformly assess the deleteriousness and potential pathogenicity of previously reported TOR2A variants. Results: There were no highly deleterious TOR2A variants in the coding or contiguous splice site regions of TOR2A within our cohort of 307 subjects. Discussion: Highly deleterious variants in TOR2A are rare in patients with BSP/BSP+ phenotypes.
- Subjects
BLEPHAROSPASM; EYELID diseases; BLINKING (Physiology); DYSTONIA; EYELIDS
- Publication
Tremor & Other Hyperkinetic Movements, 2023, Vol 13, p1
- ISSN
2160-8288
- Publication type
Article
- DOI
10.5334/tohm.825