A Deletion of SGCE Gene in a Chinese Family with Myoclonus-Dystonia Syndrome

Liping Zhang, Lin Han and Yuping Wang

Department of Pediatrics, Xuanwu Hospital Capital Medical University, China Running Gene Inc., China Department of Neurology, Xuanwu Hospital Capital Medical University, China

^*Correspondance to: Yuping Wang 

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Abstract:

Background: Myoclonus-dystonia syndrome is a rare neurological disorder characterized by a combination of myoclonic jerks and dystonia. To investigate the causative factor in a big family with myoclonus-dystonia syndrome, we performed whole-exome sequencing and Sanger sequencing for affected family members. Methods and Results: The proband and her affected family members manifested typical neurological symptoms of myoclonus alone or with dystonia. The proband did not respond to antiepileptic and other symptomatic medications. We identified a heterozygous single-nucleotide deletion of SGCE gene, c.360delT (p.E121Kfs*11), in the proband. Affected members in this family are heterozygous carriers of this variant. The patient’s father and his two brothers are carriers but asymptomatic. It is consistent with the autosomal dominant pattern of inheritance with maternal imprinting which caused incomplete penetrance of SGCE-associated myoclonus-dystonia syndrome. Conclusion: This study reports a 4-generation family with myoclonus-dystonia syndrome and expands the phenotypic spectrum of variant c.360delT associated disease.

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Cite the Article:

Zhang L, Han L, Wang Y. A Deletion of SGCE Gene in a Chinese Family with Myoclonus-Dystonia Syndrome. Ann Clin Case Rep. 2021; 6: 1975..