A novel ATP1A2 gene mutation in an Irish familial hemiplegic migraine kindred.

Hdl Handle:
http://hdl.handle.net/10147/209244
Title:
A novel ATP1A2 gene mutation in an Irish familial hemiplegic migraine kindred.
Authors:
Fernandez, Desiree M; Hand, Collette K; Sweeney, Brian J; Parfrey, Nollaig A
Affiliation:
Department of Neurology, Cork University Hospital, Wilton, Cork, Ireland.
Citation:
Headache. 2008 Jan;48(1):101-8.
Journal:
Headache
Issue Date:
3-Feb-2012
URI:
http://hdl.handle.net/10147/209244
DOI:
10.1111/j.1526-4610.2007.00848.x
PubMed ID:
18184292
Abstract:
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:
eng
MeSH:
Aspartic Acid/genetics; Calcium 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
ISSN:
0017-8748 (Print); 0017-8748 (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorFernandez, Desiree Men_GB
dc.contributor.authorHand, Collette Ken_GB
dc.contributor.authorSweeney, Brian Jen_GB
dc.contributor.authorParfrey, Nollaig Aen_GB
dc.date.accessioned2012-02-03T15:16:04Z-
dc.date.available2012-02-03T15:16:04Z-
dc.date.issued2012-02-03T15:16:04Z-
dc.identifier.citationHeadache. 2008 Jan;48(1):101-8.en_GB
dc.identifier.issn0017-8748 (Print)en_GB
dc.identifier.issn0017-8748 (Linking)en_GB
dc.identifier.pmid18184292en_GB
dc.identifier.doi10.1111/j.1526-4610.2007.00848.xen_GB
dc.identifier.urihttp://hdl.handle.net/10147/209244-
dc.description.abstractOBJECTIVE: 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.en_GB
dc.language.isoengen_GB
dc.subject.meshAspartic Acid/geneticsen_GB
dc.subject.meshCalcium Channels/geneticsen_GB
dc.subject.meshChromosome Mappingen_GB
dc.subject.mesh*Chromosomes, Human, Pair 1en_GB
dc.subject.meshDNA Mutational Analysisen_GB
dc.subject.meshExonsen_GB
dc.subject.mesh*Family Healthen_GB
dc.subject.meshFemaleen_GB
dc.subject.meshGene Frequencyen_GB
dc.subject.meshGenetic Testingen_GB
dc.subject.meshHistidine/geneticsen_GB
dc.subject.meshHumansen_GB
dc.subject.meshIrelanden_GB
dc.subject.meshMaleen_GB
dc.subject.meshMigraine with Aura/*geneticsen_GB
dc.subject.meshMutation/*geneticsen_GB
dc.subject.meshNerve Tissue Proteins/geneticsen_GB
dc.subject.meshSodium Channels/geneticsen_GB
dc.subject.meshSodium-Potassium-Exchanging ATPase/*geneticsen_GB
dc.titleA novel ATP1A2 gene mutation in an Irish familial hemiplegic migraine kindred.en_GB
dc.contributor.departmentDepartment of Neurology, Cork University Hospital, Wilton, Cork, Ireland.en_GB
dc.identifier.journalHeadacheen_GB
dc.description.provinceMunster-

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