Detection of a new deleterious SGCE gene variant in Moroccan family with inherited myoclonus–dystonia

Abstract

Abstract Myoclonus–dystonia (M‐D) is a pleiotropic neuropsychiatric disorder with autosomal dominant mode of inheritance with variable severity and incomplete penetrance. Pathogenic variants in ξ‐sarcoglycan gene SGCE are the most frequently known genetic cause of M‐D with maternal imprinting, and in most cases, a symptomatic individual inherits the pathogenic variant from his or her father. This work reported a missense mutation c.662G> T inherited in the M‐D Moroccan family described for the first time, which is deleterious based on protein modeling analysis.

Keywords

• c.662G>T mutation
• familial myoclonus–dystonia
• modeling
• Morocco
• SGCE gene