Detection of a new deleterious SGCE gene variant in Moroccan family with inherited myoclonus–dystonia. Issue 3 (17th March 2022)

• Record Type: Journal Article
• Authors: Chbel, Faiza; Charroute, Hicham; Boulouiz, Redouane; Hamdaoui, Hasna; Mossafa, Houssein; Benrahma, Houda; Ouldim, Karim
• Is Part Of: Clinical case reports. Volume 10:Issue 3(2022)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2022-03-17
• Subjects: c.662G>T mutation -- familial myoclonus–dystonia -- modeling -- Morocco -- SGCE gene; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.5568
• Languages: English
• ISSNs: 2050-0904

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. Abstract : This work focus on the case of a 17‐year‐old Moroccan girl suffering from myoclonus–dystonia showing, using exome sequencing, a new SGCE c.662G> T variant, which is deleterious based on protein modeling analysis. This variant is inherited in this Moroccan family.