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- Title
A Novel SGCE Nonsense Variant Associated With Marked Intrafamilial Variability in a Turkish Family With Myoclonus‐Dystonia.
- Authors
Gultekin, Murat; Prakash, Neha; Ganos, Christos; Mirza, Meral; Bayramov, Ruslan; Bhatia, Kailash P.; Mencacci, Niccolò E.
- Abstract
Background: Myoclonus‐Dystonia syndrome (M‐D) is an autosomal‐dominant movement disorder related to SGCE gene pathogenic variants. Although there can be observed variability in clinical findings, here we describe intrafamilial variability in a Turkish family with a novel nonsense SGCE pathogenic variant. Methods: A family with variable clinical symptoms resembling M‐D were referred to our clinic. After preliminary diagnosis, patients were tested for mutations in the SGCE gene by Sanger sequencing. Results: Novel pathogenic heterozygous nonsense mutation in exon 3, c.272T>G; p.Leu91* (NM_003919.2) were observed in affected family members. Conclusion: Intrafamilial clinical variability, despite the same pathogenic variant described in this work, suggests that there are regulatory factors, epigenetic or environmental modifiers, which are the subject of a matter for future studies. View Supplementary Video 1
- Subjects
MYOCLONUS; NONSENSE mutation; FAMILIES; MOVEMENT disorders
- Publication
Movement Disorders Clinical Practice, 2019, Vol 6, Issue 6, p479
- ISSN
2330-1619
- Publication type
Article
- DOI
10.1002/mdc3.12805