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

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.

SUBMITTER: Chbel F 

PROVIDER: S-EPMC8931306 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature