Department of Neurology, Kanazawa University Graduate School of Medical Sciences, Japan.
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan.
Intern Med. 2023 Oct 15;62(20):3033-3036. doi: 10.2169/internalmedicine.1403-22. Epub 2023 Feb 15.
Pathogenic variants in Gap Junction Protein Beta 1 (GJB1) cause X-linked Charcot-Marie-Tooth (CMT) disease type 1 (CMTX1), which is a common hereditary motor and sensory neuropathy. A 45-year-old man presented with progressive muscle weakness, atrophy, sensory disturbance of all limbs from childhood, and visual field defects in both eyes at 40 years old. A segregation analysis revealed a novel variant, c.173C>A (p.P58H), in the GJB1 gene. Patients with variants at codon 58 in GJB1 showed clinically varied phenotypes, ranging from demyelinating neuropathy to cerebellar ataxia. This patient may represent one of the various clinical phenotypes of GJB1 variants.
缝隙连接蛋白β 1 （GJB1）中的致病性变异导致 X 连锁遗传性运动感觉神经病 1 型（CMTX1），这是一种常见的遗传性运动和感觉神经病。一名 45 岁男性，自幼出现进行性肌无力、萎缩，四肢感觉障碍，40 岁时出现双眼视野缺损。分离分析显示 GJB1 基因中的一个新变异 c.173C>A（p.P58H）。GJB1 密码子 58 处变异的患者表现出临床表型多样化，从脱髓鞘神经病到小脑共济失调不等。该患者可能代表 GJB1 变异的多种临床表型之一。
