Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A.

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2024-01-15 DOI:10.1038/s41439-023-00261-w

Shiroh Miura, Emina Watanabe, Kensuke Senzaki, Shigeyoshi Hiruki, Sayaka Matsumoto, Takuya Morikawa, Yusuke Uchiyama, Seiji Kurata, Masayuki Ochi, Yasumasa Ohyagi, Hiroki Shibata

引用次数: 0

Abstract

Autosomal dominant episodic ataxia type 2 (EA2) is caused by variants in CACNA1A. We examined a 20-year-old male with EA symptoms from a Japanese family with hereditary EA. Cerebellar atrophy was not evident, but single photon emission computed tomography showed cerebellar hypoperfusion. We identified a novel nonsynonymous variant in CACNA1A, NM_001127222.2:c.1805T>G (p.Leu602Arg), which is predicted to be functionally deleterious; therefore, this variant is likely responsible for EA2 in this pedigree.

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发作性共济失调 2 型伴有 CACNA1A 的新型错义变体（Leu602Arg）。

常染色体显性发作性共济失调 2 型（EA2）是由 CACNA1A 变异引起的。我们对一个日本遗传性共济失调家族中一名有共济失调症状的20岁男性进行了检查。小脑萎缩不明显，但单光子发射计算机断层扫描显示小脑灌注不足。我们在 CACNA1A 中发现了一个新的非同义变异，即 NM_001127222.2:c.1805T>G (p.Leu602Arg)，据预测该变异具有功能缺陷；因此，该变异很可能是导致该血统中 EA2 的原因。

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

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