A Novel SGCE Nonsense Variant Associated With Marked Intrafamilial Variability in a Turkish Family With Myoclonus-Dystonia.

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,

SUBMITTER: Gultekin M 

PROVIDER: S-EPMC6660223 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature