A family report of myoclonus-dystonia caused by epsilon-sarcoglycan gene mutation / 中华神经科杂志

ABSTRACT

Objective:To analyze the clinical phenotype and gene mutation characteristics in a family of myoclonus-dystonia caused by epsilon-sarcoglycan (SGCE) gene mutation in order to improve the understanding of the disease.Methods:The clinical data of a family with myoclonus-dystonia from the Shaanxi Provincial People′s Hospital in August 2019 were collected. The proband was confirmed by generation sequencing techniques to detect possible pathogenic mutations and the Sanger test was used in the family members, and the mutation characteristics of SGCE gene were analyzed and the clinical features were summarized.Results:The proband, a 46-year-old man, presented with spasmodic torticollis accompanied with involuntary movements of the extremities (especially on the left). A gene mutation of c.1011delA at the chr794229984 was identified by genetic testing in the SGCE gene, which is an unreported frameshift mutation at home and abroad. Sanger sequencing revealed the same mutation site in the proband′s eldest sister, second elder brother and his grandnephew, who pessented similar symptoms as the proband including myoclonus and dystonia. The proband′s younger niece and grandniece were a mutation carrier without obvious symptoms.Conclusions:SGCE myoclonus-dystonia is a rare autosomal dominant inherited disorder characterized by the presentation of both myoclonic jerks and dystonia, which shows clinical heterogeneity and maternal imprinting. Genetic testing confirmed the diagnosis of SGCE myoclonus-dystonia and the pathogenic mutation c.1011delA in the SGCE gene.