Double gene mutations of LRSAM1 and REEP1 and a new REEP1 mutation site found in a patient with amyotrophic lateral sclerosis with subjective paresthesia: A case report

Ibrain Pub Date : 2023-08-14 DOI:10.1002/ibra.12125
Jiahui Qin, Zun‐Lin Zhou, Yuankun Zhou, Ya Chen, Xiao‐Yan Yang, Hai‐Qing Zhang, Zucai Xu
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Abstract

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by selective degeneration of upper and lower motor neurons. Although dyskinesia is the most prominent clinical manifestation of ALS, with an in‐depth understanding of disease pathogenesis and clinical detection, more and more ALS patients are found to have nonmotor symptoms, such as sensory impairment. Genetic testing technology has developed rapidly in recent years. New genes have been proven to be involved in the pathogenesis of ALS. However, according to the existing research evidence, no literature has reported that patients with ALS have leucine‐rich repeats and sterility α mutations in motif 1 (LRSAM1) and receptor expression accessory protein 1 (REEP1). The mutation sites of REEP1 gene have not been reported, and the simultaneous mutations of two genes have not been reported. In the largest human gene mutation frequency database gnomad, the mutation sites of two genes are currently defined as new heterozygous variants with unclear clinical significance. Therefore, this article reports the clinical data of this case to further deepen the clinicians' understanding of the disease, and may provide evidence for further study of the new genotype–phenotype of LRSAM1 and REEP1.
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LRSAM1和REEP1双基因突变和一个新的REEP1突变位点在肌萎缩侧索硬化症伴有主观感觉异常的患者中发现:1例报告
肌萎缩性侧索硬化症(ALS)是一种以上下运动神经元选择性变性为特征的神经退行性疾病。虽然运动障碍是ALS最突出的临床表现,但随着对疾病发病机制的深入了解和临床检测,越来越多的ALS患者被发现有感觉功能障碍等非运动症状。基因检测技术近年来发展迅速。新的基因已被证实与ALS的发病机制有关。然而,根据现有的研究证据,尚无文献报道ALS患者在基序1 (LRSAM1)和受体表达辅助蛋白1 (REEP1)中存在富含亮氨酸的重复序列和不育α突变。REEP1基因突变位点未见报道,两基因同时突变未见报道。在最大的人类基因突变频率数据库gnomad中,两个基因的突变位点目前被定义为新的杂合变异体,临床意义不明确。因此,本文报道该病例的临床资料,以进一步加深临床医生对该病的认识,并可能为进一步研究LRSAM1和REEP1的新基因型-表型提供证据。
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