De Novo MFN2 p.Arg95Met in Severe Charcot-Marie-Tooth Disease Type 2A

IF 3 3区医学 Q1 CLINICAL NEUROLOGY

Journal of the Peripheral Nervous System Pub Date : 2026-06-24 DOI:10.1111/jns.70136

Hsi-Yen Lee, Wen-Ling Cheng, Shin-Hung Pan, Chia-Ju Lee, Yau-Huei Wei, Chin-San Liu

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引用次数: 0

Abstract

Background and Aims

Mitofusin 2 (MFN2)-related Charcot–Marie–Tooth disease type 2A (CMT2A) is often associated with early onset, severe progressive weakness, distal wasting, and reduced motor and sensory response amplitudes.

Case Report

We report a 30-year-old Taiwanese woman with infancy-onset, severe axonal sensorimotor neuropathy, progressive distal weakness and wasting, optic atrophy, bilateral sensorineural hearing loss, hypophonia, and wheelchair dependence from adolescence. Nerve conduction study was consistent with severe chronic axonal sensorimotor polyneuropathy. Whole-exome sequencing identified a heterozygous de novo Mitofusin 2 (MFN2) variant, NM_014874.4:c.284G>T, predicting p.Arg95Met.

Interpretation

This case expands the genotypic spectrum of MFN2-related Charcot–Marie–Tooth disease type 2A and supports the clinical importance of the Arg94/Arg95 region in severe early-onset MFN2 neuropathy.

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重度腓骨肌萎缩症2A型的新发MFN2 p.Arg95Met

背景和目的丝裂酶2 （MFN2）相关的2A型腓骨肌萎缩症（CMT2A）通常与早期发病、严重进行性虚弱、远端萎缩以及运动和感觉反应幅度降低相关。我们报告一位30岁的台湾女性，从青春期开始，她有严重的轴突感觉运动神经病变，进行性远端无力和萎缩，视神经萎缩，双侧感音神经性听力丧失，低音和轮椅依赖。神经传导研究与严重的慢性轴索感觉运动多发性神经病一致。全外显子组测序鉴定出一种杂合的新生Mitofusin 2 （MFN2）变异，NM_014874.4:c.284G>；T，预测p.a g95met。本病例扩大了与MFN2相关的2A型沙科-玛丽-图斯病的基因型谱，并支持Arg94/Arg95区域在严重早发性MFN2神经病变中的临床重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of the Peripheral Nervous System 医学-临床神经学

CiteScore

6.10

自引率

7.90%

发文量

审稿时长

>12 weeks

期刊介绍： The Journal of the Peripheral Nervous System is the official journal of the Peripheral Nerve Society. Founded in 1996, it is the scientific journal of choice for clinicians, clinical scientists and basic neuroscientists interested in all aspects of biology and clinical research of peripheral nervous system disorders. The Journal of the Peripheral Nervous System is a peer-reviewed journal that publishes high quality articles on cell and molecular biology, genomics, neuropathic pain, clinical research, trials, and unique case reports on inherited and acquired peripheral neuropathies. Original articles are organized according to the topic in one of four specific areas: Mechanisms of Disease, Genetics, Clinical Research, and Clinical Trials. The journal also publishes regular review papers on hot topics and Special Issues on basic, clinical, or assembled research in the field of peripheral nervous system disorders. Authors interested in contributing a review-type article or a Special Issue should contact the Editorial Office to discuss the scope of the proposed article with the Editor-in-Chief.