在临床外显子组中检测到的一种基因变体：一例长达20年未确诊的周围神经病变的病因
A variant of the gene detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years.
作者信息
Lahoz Alonso Raquel, Sienes Bailo Paula, Capablo Liesa Jose Luis, Álvarez de Andrés Sara, Bancalero Flores Jose Luis, Izquierdo Álvarez Silvia
机构信息
Department of Clinical Biochemistry, Hospital Universitario Miguel Servet, Zaragoza, Spain.
Department of Neurology, Hospital Universitario Miguel Servet, Zaragoza, Spain.
出版信息
Adv Lab Med. 2020 May 19;1(4):20200033. doi: 10.1515/almed-2020-0033. eCollection 2020 Dec.
OBJECTIVES
Describe a case with axonal Charcot-Marie-Tooth (CMT) type 2W, a neurological disease characterized by peripheral neuropathy typically involving the lower limbs and causing gait alterations and distal sensory-motor impairment.
CASE PRESENTATION
We report this case, where the application of massive genetic sequencing (NGS) with clinical exome in a molecular genetics laboratory enabled to detect the presence of candidate variants of the clinic of the patient.
CONCLUSIONS
The variant detected in gene suggests that this variant could be causative of the symptoms of the patient, who went undiagnosed for 20 years and experienced an exacerbation of symptoms over time.
目的
描述一例2W型轴索性夏科-马里-图思病（CMT）病例，这是一种以周围神经病变为特征的神经系统疾病，通常累及下肢，导致步态改变和远端感觉运动障碍。
病例介绍
我们报告此病例，在分子遗传学实验室对该患者进行临床外显子组的大规模基因测序（NGS），从而检测到患者临床候选变异的存在。
结论
在 基因中检测到的变异表明，该变异可能是导致患者症状的原因，该患者20年来一直未被诊断，且症状随时间逐渐加重。
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