Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindred
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...
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| Veröffentlicht in: | Neurogenetics 2009-07, Vol.10 (3), p.191-198 |
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| creator | Cuenca-León, Ester Corominas, Roser Montfort, Magda Artigas, Josep Roig, Manuel Bayés, Mònica Cormand, Bru Macaya, Alfons |
| description | 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. |
| doi_str_mv | 10.1007/s10048-008-0169-6 |
| format | Article |
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SLC24A4
,
ATXN3
and
ITPK1
, failed to show disease-causing mutations in our patients. Genetic heterogeneity in FHM may be greater than previously suspected.</description><identifier>ISSN: 1364-6745</identifier><identifier>EISSN: 1364-6753</identifier><identifier>DOI: 10.1007/s10048-008-0169-6</identifier><identifier>PMID: 19153782</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer-Verlag</publisher><subject>Adolescent ; Adult ; Biological and medical sciences ; Biomedical and Life Sciences ; Biomedicine ; Child ; Child, Preschool ; Chromosomes, Human, Pair 14 ; Classical genetics, quantitative genetics, hybrids ; DNA Mutational Analysis ; Female ; Fundamental and applied biological sciences. Psychology ; Genetic disorders ; Genetic Heterogeneity ; Genetic Linkage ; Genetic Predisposition to Disease ; Genetics of eukaryotes. Biological and molecular evolution ; Genome, Human ; Genome-Wide Association Study ; Genotype & phenotype ; Human ; Human Genetics ; Humans ; Lod Score ; Male ; Migraine ; Migraine with Aura - genetics ; Molecular and cellular biology ; Molecular Medicine ; Neurosciences ; Original Article ; Pedigree ; Polymorphism ; Polymorphism, Single Nucleotide ; Spain ; Vertebrates: nervous system and sense organs</subject><ispartof>Neurogenetics, 2009-07, Vol.10 (3), p.191-198</ispartof><rights>Springer-Verlag 2008</rights><rights>2009 INIST-CNRS</rights><rights>Springer-Verlag 2009</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c430t-f15fbace5139441c30cabd934a270c1336841833008086b211ba3447e74e2dd13</citedby><cites>FETCH-LOGICAL-c430t-f15fbace5139441c30cabd934a270c1336841833008086b211ba3447e74e2dd13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10048-008-0169-6$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10048-008-0169-6$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=21639971$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19153782$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cuenca-León, Ester</creatorcontrib><creatorcontrib>Corominas, Roser</creatorcontrib><creatorcontrib>Montfort, Magda</creatorcontrib><creatorcontrib>Artigas, Josep</creatorcontrib><creatorcontrib>Roig, Manuel</creatorcontrib><creatorcontrib>Bayés, Mònica</creatorcontrib><creatorcontrib>Cormand, Bru</creatorcontrib><creatorcontrib>Macaya, Alfons</creatorcontrib><title>Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindred</title><title>Neurogenetics</title><addtitle>Neurogenetics</addtitle><addtitle>Neurogenetics</addtitle><description>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.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosomes, Human, Pair 14</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genetic disorders</subject><subject>Genetic Heterogeneity</subject><subject>Genetic Linkage</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Genome, Human</subject><subject>Genome-Wide Association Study</subject><subject>Genotype & phenotype</subject><subject>Human</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Lod Score</subject><subject>Male</subject><subject>Migraine</subject><subject>Migraine with Aura - genetics</subject><subject>Molecular and cellular biology</subject><subject>Molecular Medicine</subject><subject>Neurosciences</subject><subject>Original Article</subject><subject>Pedigree</subject><subject>Polymorphism</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Spain</subject><subject>Vertebrates: nervous system and sense organs</subject><issn>1364-6745</issn><issn>1364-6753</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqFkU9PGzEQxS0EApr2A3BBFhK9LXg8Xnu3twoRihTBgfZseb3exGHXG-zk0G-Po0REQqp68B_Jv5l5z4-QC2A3wJi6TXkXVcFYXiDrQh6Rc0ApCqlKPP64i_KMfElpyRgoidUpOYMaSlQVPydPUzP43pueLtzgV72be0sHP4_GB_eD9j68mrmj65HaRRyHMY2DoyDekFMfqKEvKxN8WtBXH9ro2q_kpDN9ct_254T8md7_vvtVzJ4fHu9-zgorkK2LDsquMdaVgLUQYJFZ07Q1CsMVs4AoKwEVYnbGKtlwgMagEMop4XjbAk7I913fVRzfNi6t9eCTdX1vghs3SUuFpSiZ-i_I8z_mYWUGrz6By3ETQzahOecSscp6JgR2kI1jStF1ehX9YOJfDUxvI9G7SHQWrreRaJlrLveNN83g2kPFPoMMXO8Bk6zpu2iC9emD4yCxrtXWM99xKT-FuYsHhf-e_g42_qBJ</recordid><startdate>20090701</startdate><enddate>20090701</enddate><creator>Cuenca-León, Ester</creator><creator>Corominas, Roser</creator><creator>Montfort, Magda</creator><creator>Artigas, Josep</creator><creator>Roig, Manuel</creator><creator>Bayés, Mònica</creator><creator>Cormand, Bru</creator><creator>Macaya, Alfons</creator><general>Springer-Verlag</general><general>Springer</general><general>Springer Nature B.V</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>88G</scope><scope>8AO</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2M</scope><scope>M2O</scope><scope>M7P</scope><scope>MBDVC</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20090701</creationdate><title>Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindred</title><author>Cuenca-León, Ester ; Corominas, Roser ; Montfort, Magda ; Artigas, Josep ; Roig, Manuel ; Bayés, Mònica ; Cormand, Bru ; Macaya, Alfons</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c430t-f15fbace5139441c30cabd934a270c1336841833008086b211ba3447e74e2dd13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosomes, Human, Pair 14</topic><topic>Classical genetics, quantitative genetics, hybrids</topic><topic>DNA Mutational Analysis</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genetic disorders</topic><topic>Genetic Heterogeneity</topic><topic>Genetic Linkage</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Genome, Human</topic><topic>Genome-Wide Association Study</topic><topic>Genotype & phenotype</topic><topic>Human</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Lod Score</topic><topic>Male</topic><topic>Migraine</topic><topic>Migraine with Aura - genetics</topic><topic>Molecular and cellular biology</topic><topic>Molecular Medicine</topic><topic>Neurosciences</topic><topic>Original Article</topic><topic>Pedigree</topic><topic>Polymorphism</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Spain</topic><topic>Vertebrates: nervous system and sense organs</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cuenca-León, Ester</creatorcontrib><creatorcontrib>Corominas, Roser</creatorcontrib><creatorcontrib>Montfort, Magda</creatorcontrib><creatorcontrib>Artigas, Josep</creatorcontrib><creatorcontrib>Roig, Manuel</creatorcontrib><creatorcontrib>Bayés, Mònica</creatorcontrib><creatorcontrib>Cormand, Bru</creatorcontrib><creatorcontrib>Macaya, Alfons</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Psychology Database</collection><collection>Research Library</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Neurogenetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cuenca-León, Ester</au><au>Corominas, Roser</au><au>Montfort, Magda</au><au>Artigas, Josep</au><au>Roig, Manuel</au><au>Bayés, Mònica</au><au>Cormand, Bru</au><au>Macaya, Alfons</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindred</atitle><jtitle>Neurogenetics</jtitle><stitle>Neurogenetics</stitle><addtitle>Neurogenetics</addtitle><date>2009-07-01</date><risdate>2009</risdate><volume>10</volume><issue>3</issue><spage>191</spage><epage>198</epage><pages>191-198</pages><issn>1364-6745</issn><eissn>1364-6753</eissn><abstract>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.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer-Verlag</pub><pmid>19153782</pmid><doi>10.1007/s10048-008-0169-6</doi><tpages>8</tpages></addata></record> |
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| ispartof | Neurogenetics, 2009-07, Vol.10 (3), p.191-198 |
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| subjects | Adolescent Adult Biological and medical sciences Biomedical and Life Sciences Biomedicine Child Child, Preschool Chromosomes, Human, Pair 14 Classical genetics, quantitative genetics, hybrids DNA Mutational Analysis Female Fundamental and applied biological sciences. Psychology Genetic disorders Genetic Heterogeneity Genetic Linkage Genetic Predisposition to Disease Genetics of eukaryotes. Biological and molecular evolution Genome, Human Genome-Wide Association Study Genotype & phenotype Human Human Genetics Humans Lod Score Male Migraine Migraine with Aura - genetics Molecular and cellular biology Molecular Medicine Neurosciences Original Article Pedigree Polymorphism Polymorphism, Single Nucleotide Spain Vertebrates: nervous system and sense organs |
| title | Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindred |
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