Source:http://linkedlifedata.com/resource/pubmed/id/19153782
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
2009-6-10
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| pubmed:abstractText |
We sought to map the disease-causing gene in a large Spanish kindred with familial hemiplegic migraine (FHM). Patients were classified according to the ICHD-II criteria. After ruling out linkage to known migraine genetic loci, a single nucleotide polymorphism-based, 0.62-cM density genome-wide scan was performed. Among 13 affected subjects, FHM was the prevailing migraine phenotype in six, migraine with aura in four and migraine without aura in three. Linkage analysis revealed a disease locus in a 4.15-Mb region on 14q32 with a maximum two-point logarithm of odds (LOD) score of 3.1 and a multipoint parametric LOD score of 3.8. This genomic region does not overlap with the reported migraine loci on 14q21-22. Sequence analysis of three candidate genes in the region, SLC24A4, ATXN3 and ITPK1, failed to show disease-causing mutations in our patients. Genetic heterogeneity in FHM may be greater than previously suspected.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
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| pubmed:month |
Jul
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| pubmed:issn |
1364-6753
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| pubmed:author | |
| pubmed:issnType |
Electronic
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| pubmed:volume |
10
|
| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
191-8
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| pubmed:dateRevised |
2010-11-18
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| pubmed:meshHeading |
pubmed-meshheading:19153782-Adolescent,
pubmed-meshheading:19153782-Adult,
pubmed-meshheading:19153782-Child,
pubmed-meshheading:19153782-Child, Preschool,
pubmed-meshheading:19153782-Chromosomes, Human, Pair 14,
pubmed-meshheading:19153782-DNA Mutational Analysis,
pubmed-meshheading:19153782-Female,
pubmed-meshheading:19153782-Genetic Heterogeneity,
pubmed-meshheading:19153782-Genetic Linkage,
pubmed-meshheading:19153782-Genetic Predisposition to Disease,
pubmed-meshheading:19153782-Genome, Human,
pubmed-meshheading:19153782-Genome-Wide Association Study,
pubmed-meshheading:19153782-Humans,
pubmed-meshheading:19153782-Lod Score,
pubmed-meshheading:19153782-Male,
pubmed-meshheading:19153782-Migraine with Aura,
pubmed-meshheading:19153782-Pedigree,
pubmed-meshheading:19153782-Polymorphism, Single Nucleotide,
pubmed-meshheading:19153782-Spain
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| pubmed:year |
2009
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| pubmed:articleTitle |
Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindred.
|
| pubmed:affiliation |
Grup de Recerca en Neurologia Infantil i Psiquiatria Genètica, Institut de Recerca Hospital Universitari Vall d'Hebron, Pg. Vall d'Hebron 119-129, 08035 Barcelona, Spain.
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|