Murat Gultekin1, Neha Prakash2, Christos Ganos3, Meral Mirza1, Ruslan Bayramov4, Kailash P Bhatia5, Niccolò E Mencacci2,5. 1. Department of Neurology Erciyes University Faculty of Medicine Kayseri Turkey. 2. Department of Neurology Northwestern University Feinberg School of Medicine Chicago Illinois USA. 3. Department of Neurology Charité University Medicine Berlin Berlin Germany. 4. Department of Medical Genetics DETA-GEN Genetic Diagnosis Center Kayseri Turkey. 5. Institute of Neurology University College London London United Kingdom.
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.
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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