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Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants
Neuromuscular Disorders ( IF 2.8 ) Pub Date : 2020-07-01 , DOI: 10.1016/j.nmd.2020.05.005
Maxwell T Ma 1 , Dong-Hui Chen 2 , Wendy H Raskind 3 , Thomas D Bird 4
Affiliation  

Distal hereditary motor neuropathy (dHMN) is an inherited neuromuscular disease characterized by symmetric distal weakness and atrophy without sensory changes. There are about thirty known genes associated with dHMN, but together they explain only about a third of cases. Mutations in the sigma non-opioid intracellular receptor 1 gene (SIGMAR1) has been linked to autosomal recessive dHMN with pyramidal signs in several families. This phenotype can mimic amyotrophic lateral sclerosis (ALS). We report a 39-year-old man who was referred to our ALS clinic with distal motor weakness and hyperreflexia. Whole exome sequencing identified two novel variants in the SIGMAR1 gene in the proband. Targeted Sanger sequencing of asymptomatic family members confirmed that each carried one of these two variants. Our findings expand the number of known SIGMAR1 pathogenic variants associated with dHMN, which should be clinically distinguished from ALS.

中文翻译:

SIGMAR1 基因突变导致远端遗传性运动神经病表型模仿 ALS:两种新型变异的报告

远端遗传性运动神经病 (dHMN) 是一种遗传性神经肌肉疾病,其特征是对称性远端无力和萎缩而没有感觉变化。大约有 30 种已知基因与 dHMN 相关,但它们加在一起只能解释大约三分之一的病例。sigma 非阿片类细胞内受体 1 基因 (SIGMAR1) 的突变与几个家族中具有锥体体征的常染色体隐性遗传 dHMN 相关。这种表型可以模拟肌萎缩侧索硬化 (ALS)。我们报告了一名 39 岁男性,他因远端运动无力和反射亢进被转诊到我们的 ALS 诊所。全外显子组测序在先证者的 SIGMAR1 基因中发现了两个新的变异。无症状家庭成员的靶向 Sanger 测序证实,每个人都携带这两种变异中的一种。
更新日期:2020-07-01
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