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

chbel faiza; charoute hicham; Boulouiz redouane; Hamdaoui Hasna; Mossafa Houssein; Benrahma houda; Karim Ouldim

doi:10.22541/au.163254136.66611445/v1

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

chbel faiza,
charoute hicham,
Boulouiz redouane,
Hamdaoui Hasna,
Mossafa Houssein,
Benrahma houda,
Karim Ouldim

Abstract

Myoclonus-Dystonia is a neuropsychiatric disorder with autosomal dominant mode of inheritance with variable severity and incomplete penetrance. Pathogenic variants in SGCE are the most frequent genetic cause of M-D with maternal imprinting. Herein we report a new deleterious variant based on protein modeling analysis (c.662G> T) inherited in moroccan family.

14 Jul 2021Submitted to Clinical Case Reports

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30 Aug 2021Submission Checks Completed

30 Aug 2021Assigned to Editor

09 Sep 2021Reviewer(s) Assigned

28 Sep 2021Review(s) Completed, Editorial Evaluation Pending

09 Oct 2021Editorial Decision: Revise Minor

14 Dec 20211st Revision Received

17 Dec 2021Submission Checks Completed

17 Dec 2021Assigned to Editor

17 Dec 2021Review(s) Completed, Editorial Evaluation Pending

28 Jan 2022Editorial Decision: Accept

Abstract

Peer review status:ACCEPTED