Liping Zhang1, Lin Han2 and Yuping Wang3*
1Department of Pediatrics, Xuanwu Hospital Capital Medical University, China 2Running Gene Inc., China 3Department of Neurology, Xuanwu Hospital Capital Medical University, ChinaFulltext PDF
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.
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..