常染色体显性小脑性共济失调的杂合性GRID2突变。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2022-07-27 DOI:10.1038/s41439-022-00204-x

Kishin Koh, Haruo Shimazaki, Matsuo Ogawa, Yoshihisa Takiyama

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引用次数: 1

摘要

在阿尔及利亚一个常染色体显性小脑性共济失调(ADCA)家族中首次报道了导致SCAR18的GRID2杂合突变。我们确定了第二个ADCA家族具有杂合的GRID2突变。阿尔及利亚家庭有认知障碍和听力损失与小脑性共济失调有关。然而，这里介绍的日本家庭表现为纯粹的小脑性共济失调。因此，我们也应该在单纯小脑性共济失调的ADCA家族中筛选GRID2突变。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia.

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A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia.

A heterozygous mutation in GRID2 that causes SCAR18 was first reported in an Algerian family with autosomal dominant cerebellar ataxia (ADCA). We identified the second ADCA family with a heterozygous GRID2 mutation. The Algerian family had cognitive impairment and hearing loss associated with cerebellar ataxia. However, the Japanese family presented here showed pure cerebellar ataxia. Therefore, we should also screen for the GRID2 mutation in ADCA families with pure cerebellar ataxia.

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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