Gultekin, M;
Prakash, N;
Ganos, C;
Mirza, M;
Bayramov, R;
Bhatia, KP;
Mencacci, NE;
(2019)
A Novel SGCE Nonsense Variant Associated With Marked Intrafamilial Variability in a Turkish Family With Myoclonus‐Dystonia.
Movement Disorders Clinical Practice
, 6
(6)
pp. 479-482.
10.1002/mdc3.12805.
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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.
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