Novel splice site CACNA1A mutation causing episodic ataxia type 2
Novel splice site CACNA1A mutation causing episodic ataxia type 2
复制标题
DOI：
10.1007/s10048-003-0161-0
复制
发表时间：
2004-02-01
期刊：
影响因子：
2.2
通讯作者：
Wessman, M
中科院分区：
文献类型：
--
作者：
Kaunisto, MA;Harno, H;Wessman, M
发作性共济失调2型（EA-2）是一种常染色体显性遗传的神经系统疾病，其特征为共济失调、眩晕、恶心、眼球震颤和疲劳发作，与乙酰唑胺反应相关。该疾病是由位于染色体19p13.2上的P/Q型钙通道Ca（v）2.1亚基基因CACNA 1A突变引起的。我们分析了一个家庭与13个受影响的个人连锁这个位点，并达到了两个点的最大LOD得分为4.48。通过测序发现了一个新的CACNA 1A突变，IVS 36 -2A>G，位于内含子36的3'受体剪接位点。这是第一个描述的CACNA 1A受体剪接位点突变和最C-末端EA-2引起的突变报告的日期。
Episodic ataxia type 2 (EA-2) is an autosomal dominant neurological disorder, characterized by episodes of ataxia, vertigo, nausea, nystagmus, and fatigue, associated with acetazolamide responsiveness. The disease is caused by mutations in the P/Q-type calcium channel Ca(v)2.1 subunit gene, CACNA1A, located on chromosome 19p13.2. We analyzed a family with 13 affected individuals for linkage to this locus and reached a two-point maximum LOD score of 4.48. A novel CACNA1A mutation, IVS36-2A>G, at the 3' acceptor splice site of intron 36 was identified by sequencing. It is the first described CACNA1A acceptor splice site mutation and the most C-terminal EA-2-causing mutation reported to date.