A novel ATP1A2 gene mutation in an Irish familial hemiplegic migraine kindred.
Affiliation
Department of Neurology, Cork University Hospital, Wilton, Cork, Ireland.Issue Date
2012-02-03T15:16:04ZMeSH
Aspartic Acid/geneticsCalcium Channels/genetics
Chromosome Mapping
*Chromosomes, Human, Pair 1
DNA Mutational Analysis
Exons
*Family Health
Female
Gene Frequency
Genetic Testing
Histidine/genetics
Humans
Ireland
Male
Migraine with Aura/*genetics
Mutation/*genetics
Nerve Tissue Proteins/genetics
Sodium Channels/genetics
Sodium-Potassium-Exchanging ATPase/*genetics
Metadata
Show full item recordCitation
Headache. 2008 Jan;48(1):101-8.Journal
HeadacheDOI
10.1111/j.1526-4610.2007.00848.xPubMed ID
18184292Abstract
OBJECTIVE: We studied a large Irish Caucasian pedigree with familial hemiplegic migraine (FHM) with the aim of finding the causative gene mutation. BACKGROUND: FHM is a rare autosomal-dominant subtype of migraine with aura, which is linked to 4 loci on chromosomes 19p13, 1q23, 2q24, and 1q31. The mutations responsible for hemiplegic migraine have been described in the CACNA1A gene (chromosome 19p13), ATP1A2 gene (chromosome 1q23), and SCN1A gene (chromosome 2q24). METHODS: We performed linkage analyses in this family for chromosome 1q23 and performed mutation analysis of the ATP1A2 gene. RESULTS: Linkage to the FHM2 locus on chromosome 1 was demonstrated. Mutation screening of the ATP1A2 gene revealed a G to C substitution in exon 22 resulting in a novel protein variant, D999H, which co-segregates with FHM within this pedigree and is absent in 50 unaffected individuals. This residue is also highly conserved across species. CONCLUSIONS: We propose that D999H is a novel FHM ATP1A2 mutation.Language
engISSN
0017-8748 (Print)0017-8748 (Linking)
ae974a485f413a2113503eed53cd6c53
10.1111/j.1526-4610.2007.00848.x