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

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 ca...

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Bibliographic Details
Published in:Clinical case reports 2022-03, Vol.10 (3), p.e05568-n/a
Main Authors: Chbel, Faiza, Charroute, Hicham, Boulouiz, Redouane, Hamdaoui, Hasna, Mossafa, Houssein, Benrahma, Houda, Ouldim, Karim
Format: Article
Language:English
Subjects:
c.662G>T mutation
Case Report
Case Reports
Chromosomes
Disease
DNA methylation
Dystonia
familial myoclonus–dystonia
Families & family life
Genes
Genetic counseling
modeling
Morocco
Mutation
Patients
Proteins
SGCE gene
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Description
Summary: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. 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.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.5568