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Novel splice site CACNA1A mutation causing episodic ataxia type 2
- Source :
- neurogenetics. 5:69-73
- Publication Year :
- 2004
- Publisher :
- Springer Science and Business Media LLC, 2004.
-
Abstract
- 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, IVS36-2AG, 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.
- Subjects :
- Adult
Male
Ataxia
Adolescent
Cerebellar Ataxia
Locus (genetics)
Biology
03 medical and health sciences
Cellular and Molecular Neuroscience
0302 clinical medicine
Chromosome 19
Genetics
medicine
Humans
Missense mutation
splice
Child
Gene
Genetics (clinical)
030304 developmental biology
0303 health sciences
Polymorphism, Genetic
Splice site mutation
Intron
Introns
Pedigree
Protein Structure, Tertiary
3. Good health
Phenotype
Child, Preschool
Female
Calcium Channels
RNA Splice Sites
Lod Score
medicine.symptom
Chromosomes, Human, Pair 19
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 13646753 and 13646745
- Volume :
- 5
- Database :
- OpenAIRE
- Journal :
- neurogenetics
- Accession number :
- edsair.doi.dedup.....ef620be71a56c50b9bf767ac04b94211