Neurology Department, Neuromuscular Unit, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Department of Molecular Biology and Genetics, Center for Life Sciences and Technologies, Bogazici University, Istanbul, Turkey, and.
Amyotroph Lateral Scler Frontotemporal Degener. 2023 Aug;24(5-6):535-538. doi: 10.1080/21678421.2023.2189925. Epub 2023 Mar 19.
is the first identified causative gene for amyotrophic lateral sclerosis. Recently, a novel syndrome, presenting with severe childhood-onset spastic tetraplegia and axial hypotonia caused by the homozygous truncating variants in the gene, is described. A 22-month-old boy was admitted with a loss of motor functions that began at the age of 9 months. Neurological was significant for axial hypotonia with spastic tetraplegia and hyperekplexia-like jerky movements. In WES, we found a novel homozygous variant (c.52_56del5ins154) in the gene, resulting in a total loss of mRNA expression in the real-time PCR analysis. Western blot analyses confirmed the lack of protein production. Erythrocyte superoxide dismutase enzymatic activity was nearly abolished. The heterozygous family members displayed reduced superoxide dismutase 1 protein expression and enzymatic activity (by about 40%), compared with the healthy control. Our study expanded the mutation spectrum of .
是肌萎缩侧索硬化症的第一个确定的致病基因。最近，描述了一种新的综合征，其特征为严重的儿童期起病的痉挛性四肢瘫痪和轴性低张力，由 基因的纯合截断变异引起。一名 22 个月大的男孩因 9 个月大时开始出现运动功能丧失而入院。神经学表现为轴性低张力伴痉挛性四肢瘫痪和类似肌阵挛的急促运动。在 WES 中，我们在 基因中发现了一个新的纯合变异（c.52_56del5ins154），导致实时 PCR 分析中 mRNA 表达完全缺失。Western blot 分析证实了缺乏蛋白质产生。红细胞超氧化物歧化酶酶活性几乎被废除。杂合子家庭成员的超氧化物歧化酶 1 蛋白表达和酶活性（约 40%）与健康对照组相比降低。我们的研究扩展了 的突变谱。
