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COQ7 基因纯合变异导致常染色体隐性遗传痉挛性截瘫。

Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia.

机构信息

Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China.

Rare Disease Center, The First Affiliated Hospital of Nanchang University, Nanchang, China.

出版信息

Ann Clin Transl Neurol. 2024 Apr;11(4):1067-1074. doi: 10.1002/acn3.52037. Epub 2024 Mar 4.

DOI:10.1002/acn3.52037
PMID:38439593
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11021622/
Abstract

Biallelic mutations in the coenzyme Q7 (COQ7) encoding gene were recently identified as a genetic cause of distal hereditary motor neuropathy. Here, we explored the clinical, electrophysiological, pathological, and genetic characteristics of a Chinese patient with spastic paraplegia associated with recessive variants in COQ7. This patient carried a novel c.322C>A (p.Pro108Thr) homozygous variant. Sural biopsy revealed mild mixed axonal and demyelinating degeneration. Immunoblotting showed a significant decrease in the COQ7 protein level in the patient's fibroblasts. This study confirmed that COQ7 variant as a genetic cause of HSP, and further extended spastic paraplegia to the phenotypic spectrum of COQ7-related disorders.

摘要

编码辅酶 Q7（COQ7）的双等位基因突变最近被确定为导致远端遗传性运动神经病的遗传原因。在这里，我们探讨了一位携带 COQ7 隐性变异相关痉挛性截瘫中国患者的临床、电生理、病理和遗传特征。该患者携带一种新型 c.322C>A (p.Pro108Thr) 纯合变异。腓肠神经活检显示轻度混合性轴索和脱髓鞘变性。免疫印迹显示患者成纤维细胞中的 COQ7 蛋白水平显著降低。本研究证实 COQ7 变异是 HSP 的遗传原因，并进一步将痉挛性截瘫扩展到 COQ7 相关疾病的表型谱。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3490/11021622/bd0bb37c0959/ACN3-11-1067-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3490/11021622/60e08bb2458f/ACN3-11-1067-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3490/11021622/bd0bb37c0959/ACN3-11-1067-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3490/11021622/60e08bb2458f/ACN3-11-1067-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3490/11021622/bd0bb37c0959/ACN3-11-1067-g002.jpg

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Axonal Charcot-Marie-Tooth disease due to COQ7 mutation: expanding the genetic and clinical spectrum.
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