Novel splice site CACNA1A mutation causing episodic ataxia type 2

被引：24

作者：

Kaunisto, MA

Harno, H

Kallela, M

Somer, H

Sallinen, R

Hämäläinen, E

Miettinen, PJ

Vesa, J

Orpana, A

Palotie, A

Färkkilä, M

Wessman, M

机构：

[1] Univ Helsinki, Mol Med Res Program, Biomedicum Helsinki, Helsinki 00029, Finland

[2] Univ Helsinki, Dept Clin Chem, SF-00100 Helsinki, Finland

[3] Univ Helsinki, Cent Hosp, Dept Neurol, Helsinki, Finland

[4] Univ Helsinki, Cent Hosp, Lab, Helsinki, Finland

[5] Univ Helsinki, Biomedicum Helsinki, Program Dev & Reprod Biol, Helsinki, Finland

[6] Univ Helsinki, Haartman Inst, Helsinki, Finland

[7] Univ Helsinki, Cent Hosp, Hosp Sick Children & Adolescents, Helsinki, Finland

[8] Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Human Genet, Los Angeles, CA USA

[9] Univ Helsinki, Finnish Genome Ctr, Helsinki, Finland

[10] Folhalsan Res Ctr, Helsinki, Finland

来源：

NEUROGENETICS | 2004年 / 5卷 / 01期

关键词：

voltage-dependent calcium channel; P/Q type; alpha 1A subunit; ataxia; DNA sequence analysis; RNA splice sites; chromosome; 19;

D O I：

10.1007/s10048-003-0161-0

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：69 / 73

页数：5

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