Chbel Faiza, Charroute Hicham, Boulouiz Redouane, Hamdaoui Hasna, Mossafa Houssein, Benrahma Houda, Ouldim Karim
National Reference Laboratory Faculty of Medicine Mohammed VI University of Health Sciences (UM6SS) Casablanca Morocco.
Laboratoire de BioGéosciences et Ingénierie de Matériaux Ecole Normale Supérieure Université Hassan II Casablanca Morocco.
Clin Case Rep. 2022 Mar 17;10(3):e05568. doi: 10.1002/ccr3.5568. eCollection 2022 Mar.
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.
肌阵挛性肌张力障碍（M-D）是一种多效性神经精神疾病，具有常染色体显性遗传模式，严重程度各异且外显率不完全。ξ-肌聚糖基因SGCE中的致病变异是M-D最常见的已知遗传原因，具有母系印记，在大多数情况下，有症状的个体从其父亲那里继承致病变异。这项研究报道了首次描述的一个M-D摩洛哥家族中遗传的错义突变c.662G>T，基于蛋白质建模分析，该突变具有有害性。
