由HADHA基因变异引起的线粒体三功能蛋白缺乏引起的周围神经病变。

Q3 Medicine Iranian Journal of Pathology Pub Date : 2024-01-01 Epub Date: 2024-07-24 DOI:10.30699/IJP.2024.2010490.3163
Samaneh Abedidoust, Reza-Shervin Badv, Amitis Saliani, Aileen Azari-Yam
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引用次数: 0

摘要

我们报告了一名 4.5 岁女孩的病例,她自 1.5 岁起上呼吸道感染,之后反复出现双侧下肢无力。神经传导速度和肌电图检查提示她患有远端运动神经病。全外显子组测序分析显示,患者的线粒体三功能蛋白α亚基(HADHA)基因存在一个同源变异,即c.955G>A(p.Gly319Ser)。据报道,在一个可能被诊断为夏科-玛丽-牙病的伊朗近亲家庭中,该变异基因是致病基因。此外,该变异基因与另一个可能致病的变异基因复合杂合,已知与线粒体三功能蛋白缺乏症有关。
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Peripheral Neuropathy in Mitochondrial Trifunctional Protein Deficiency due to a Variant in HADHA Gene.

We report a 4.5-year-old girl with recurrent episodes of bilateral lower limb weakness following periods of upper respiratory tract infection since the age of 1.5 years. Nerve conduction velocity and electromyography studies suggested distal motor neuropathy. The whole exome sequencing analysis revealed a homozygous variant, c.955G>A (p.Gly319Ser), of the mitochondrial trifunctional protein α-subunit (HADHA) gene. This variant has already been reported as pathogenic in an Iranian consanguineous family with a probable diagnosis of Charcot-Marie-Tooth disease. In addition, this variant, in compound heterozygosity with another likely pathogenic variant, has been known to be linked with mitochondrial trifunctional protein deficiency.

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来源期刊
Iranian Journal of Pathology
Iranian Journal of Pathology Medicine-Pathology and Forensic Medicine
CiteScore
2.00
自引率
0.00%
发文量
99
审稿时长
20 weeks
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