日本患者遗传性痉挛性截瘫与罕见的KIF5A无义变异。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2025-06-02 DOI:10.1038/s41439-025-00313-3

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

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引用次数: 0

摘要

痉挛性截瘫（SPG）10是由运动蛋白家族成员5A （KIF5A）基因变异引起的常染色体显性SPG。我们描述了一个日本的SPG患者，其已故的母亲和舅舅也表现出SPG。外显子组分析鉴定出一种罕见的KIF5A无义变异（NM_004984.4:c）。2590C>T (p.Arg864Ter))在病人体内，被认为是致病的。与健康对照相比，KIF5A mRNA的表达显著降低，因此该变异被认为是SPG的病因。

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

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.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks