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一名患有遗传性痉挛性截瘫的日本患者，携带一种罕见的KIF5A无义变异。

A Japanese patient with hereditary spastic paraplegia with a rare KIF5A nonsense variant.

作者信息

Miura Shiroh, Suenaga Seria, Goto Hana, Wang Zhaonan, Makino Akane, Fan Luoming, Senzaki Kensuke, Ochi Masayuki, Ohyagi Yasumasa, Shibata Hiroki

机构信息

Department of Neurology and Geriatric Medicine, Ehime University Graduate School of Medicine, Toon, Japan.

Division of Genomics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.

出版信息

Hum Genome Var. 2025 Jun 2;12(1):11. doi: 10.1038/s41439-025-00313-3.

DOI:10.1038/s41439-025-00313-3
PMID:40456722
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12130483/
Abstract

Spastic paraplegia (SPG)10 is an autosomal dominant SPG caused by kinesin family member 5A (KIF5A) gene variants. We describe a Japanese patient with SPG whose deceased mother and maternal uncle also exhibited SPG. Exome analysis identified a rare KIF5A nonsense variant (NM_004984.4:c.2590C>T (p.Arg864Ter)) in the patient, regarded as pathogenic. As KIF5A mRNA expression was significantly decreased compared with that of a healthy control, the variant was deemed causative of SPG.

摘要

痉挛性截瘫（SPG）10是一种由驱动蛋白家族成员5A（KIF5A）基因变异引起的常染色体显性SPG。我们描述了一名患有SPG的日本患者，其已故母亲和舅舅也患有SPG。外显子组分析在该患者中鉴定出一种罕见的KIF5A无义变异（NM_004984.4:c.2590C>T（p.Arg864Ter）），被认为具有致病性。由于与健康对照相比，KIF5A mRNA表达显著降低，该变异被认为是SPG的病因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5992/12130483/d3306cfea317/41439_2025_313_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5992/12130483/2dfc6f6c8b01/41439_2025_313_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5992/12130483/d3306cfea317/41439_2025_313_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5992/12130483/2dfc6f6c8b01/41439_2025_313_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5992/12130483/d3306cfea317/41439_2025_313_Fig2_HTML.jpg

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本文引用的文献

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Hot-spot KIF5A mutations cause familial ALS.热点 KIF5A 突变导致家族性肌萎缩侧索硬化症。
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Molecular motor KIF5A is essential for GABA(A) receptor transport, and KIF5A deletion causes epilepsy.分子马达 KIF5A 对于 GABA(A) 受体的运输是必需的，而 KIF5A 的缺失会导致癫痫。
Neuron. 2012 Dec 6;76(5):945-61. doi: 10.1016/j.neuron.2012.10.012.
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