Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
Identifieur interne : 006070 ( Main/Exploration ); précédent : 006069; suivant : 006071Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
Auteurs : Rachel Soemedi [Royaume-Uni] ; Ana Topf [Royaume-Uni] ; Ian J. Wilson [Royaume-Uni] ; Rebecca Darlay [Royaume-Uni] ; Thahira Rahman [Royaume-Uni] ; Elise Glen [Royaume-Uni] ; Darroch Hall [Royaume-Uni] ; Ni Huang [Royaume-Uni] ; Jamie Bentham [Royaume-Uni] ; Shoumo Bhattacharya [Royaume-Uni] ; Catherine Cosgrove [Royaume-Uni] ; J. David Brook [Royaume-Uni] ; Javier Granados-Riveron [Royaume-Uni] ; Kerry Setchfield [Royaume-Uni] ; Frances Bu'Lock [Royaume-Uni] ; Chris Thornborough [Royaume-Uni] ; Koenraad Devriendt [Belgique] ; Jeroen Breckpot [Belgique] ; Michael Hofbeck [Allemagne] ; Mark Lathrop [France] ; Anita Rauch [Suisse] ; Gillian M. Blue [Australie] ; David S. Winlaw [Australie] ; Matthew Hurles [Royaume-Uni] ; Mauro Santibanez-Koref [Royaume-Uni] ; Heather J. Cordell [Royaume-Uni] ; Judith A. Goodship [Royaume-Uni] ; Bernard D. Keavney [Royaume-Uni]Source :
- Human Molecular Genetics [ 0964-6906 ] ; 2011.
Abstract
Recurrent rearrangements of chromosome 1q21.1 that occur via non-allelic homologous recombination have been associated with variable phenotypes exhibiting incomplete penetrance, including congenital heart disease (CHD). However, the gene or genes within the ∼1 Mb critical region responsible for each of the associated phenotypes remains unknown. We examined the 1q21.1 locus in 948 patients with tetralogy of Fallot (TOF), 1488 patients with other forms of CHD and 6760 ethnically matched controls using single nucleotide polymorphism genotyping arrays (Illumina 660W and Affymetrix 6.0) and multiplex ligation-dependent probe amplification. We found that duplication of 1q21.1 was more common in cases of TOF than in controls [odds ratio (OR) 30.9, 95% confidence interval (CI) 8.9–107.6);
Url:
DOI: 10.1093/hmg/ddr589
PubMed: 22199024
PubMed Central: 3298277
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Phenotype-specific effect of chromosome 1q21.1 rearrangements and <italic>GJA5</italic> duplications in 2436 congenital heart disease patients and 6760 controls</title><author><name sortKey="Soemedi, Rachel" sort="Soemedi, Rachel" uniqKey="Soemedi R" first="Rachel" last="Soemedi">Rachel Soemedi</name><affiliation wicri:level="1"><nlm:aff id="af1"><institution>Institute of Genetic Medicine, Newcastle University</institution>,<addr-line>Newcastle</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Topf, Ana" sort="Topf, Ana" uniqKey="Topf A" first="Ana" last="Topf">Ana Topf</name><affiliation wicri:level="1"><nlm:aff id="af1"><institution>Institute of Genetic Medicine, Newcastle University</institution>,<addr-line>Newcastle</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Wilson, Ian J" sort="Wilson, Ian J" uniqKey="Wilson I" first="Ian J." last="Wilson">Ian J. Wilson</name><affiliation wicri:level="1"><nlm:aff id="af1"><institution>Institute of Genetic Medicine, Newcastle University</institution>,<addr-line>Newcastle</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Darlay, Rebecca" sort="Darlay, Rebecca" uniqKey="Darlay R" first="Rebecca" last="Darlay">Rebecca Darlay</name><affiliation wicri:level="1"><nlm:aff id="af1"><institution>Institute of Genetic Medicine, Newcastle University</institution>,<addr-line>Newcastle</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Rahman, Thahira" sort="Rahman, Thahira" uniqKey="Rahman T" first="Thahira" last="Rahman">Thahira Rahman</name><affiliation wicri:level="1"><nlm:aff id="af1"><institution>Institute of Genetic Medicine, Newcastle University</institution>,<addr-line>Newcastle</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Glen, Elise" sort="Glen, Elise" uniqKey="Glen E" first="Elise" last="Glen">Elise Glen</name><affiliation wicri:level="1"><nlm:aff id="af1"><institution>Institute of Genetic Medicine, Newcastle University</institution>,<addr-line>Newcastle</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Hall, Darroch" sort="Hall, Darroch" uniqKey="Hall D" first="Darroch" last="Hall">Darroch Hall</name><affiliation wicri:level="1"><nlm:aff id="af1"><institution>Institute of Genetic Medicine, Newcastle University</institution>,<addr-line>Newcastle</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Huang, Ni" sort="Huang, Ni" uniqKey="Huang N" first="Ni" last="Huang">Ni Huang</name><affiliation wicri:level="1"><nlm:aff id="af2"><institution>Wellcome Trust Sanger Institute</institution>,<addr-line>Cambridge</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Bentham, Jamie" sort="Bentham, Jamie" uniqKey="Bentham J" first="Jamie" last="Bentham">Jamie Bentham</name><affiliation wicri:level="1"><nlm:aff id="af3"><addr-line>Department of Cardiovascular Medicine</addr-line>,<institution>University of Oxford</institution>,<addr-line>Oxford</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Bhattacharya, Shoumo" sort="Bhattacharya, Shoumo" uniqKey="Bhattacharya S" first="Shoumo" last="Bhattacharya">Shoumo Bhattacharya</name><affiliation wicri:level="1"><nlm:aff id="af3"><addr-line>Department of Cardiovascular Medicine</addr-line>,<institution>University of Oxford</institution>,<addr-line>Oxford</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cosgrove, Catherine" sort="Cosgrove, Catherine" uniqKey="Cosgrove C" first="Catherine" last="Cosgrove">Catherine Cosgrove</name><affiliation wicri:level="1"><nlm:aff id="af3"><addr-line>Department of Cardiovascular Medicine</addr-line>,<institution>University of Oxford</institution>,<addr-line>Oxford</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Brook, J David" sort="Brook, J David" uniqKey="Brook J" first="J. David" last="Brook">J. David Brook</name><affiliation wicri:level="1"><nlm:aff id="af4"><addr-line>School of Biology</addr-line>,<institution>University of Nottingham</institution>,<addr-line>Nottingham</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Granados Riveron, Javier" sort="Granados Riveron, Javier" uniqKey="Granados Riveron J" first="Javier" last="Granados-Riveron">Javier Granados-Riveron</name><affiliation wicri:level="1"><nlm:aff id="af4"><addr-line>School of Biology</addr-line>,<institution>University of Nottingham</institution>,<addr-line>Nottingham</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Setchfield, Kerry" sort="Setchfield, Kerry" uniqKey="Setchfield K" first="Kerry" last="Setchfield">Kerry Setchfield</name><affiliation wicri:level="1"><nlm:aff id="af4"><addr-line>School of Biology</addr-line>,<institution>University of Nottingham</institution>,<addr-line>Nottingham</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Bu Lock, Frances" sort="Bu Lock, Frances" uniqKey="Bu Lock F" first="Frances" last="Bu'Lock">Frances Bu'Lock</name><affiliation wicri:level="1"><nlm:aff id="af5"><institution>East Midlands Congenital Heart Center</institution>,<addr-line>Leicester</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Thornborough, Chris" sort="Thornborough, Chris" uniqKey="Thornborough C" first="Chris" last="Thornborough">Chris Thornborough</name><affiliation wicri:level="1"><nlm:aff id="af5"><institution>East Midlands Congenital Heart Center</institution>,<addr-line>Leicester</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Devriendt, Koenraad" sort="Devriendt, Koenraad" uniqKey="Devriendt K" first="Koenraad" last="Devriendt">Koenraad Devriendt</name><affiliation wicri:level="1"><nlm:aff id="af6"><addr-line>Center for Human Genetics</addr-line>,<institution>University Hospital Leuven</institution>,<addr-line>Leuven</addr-line>,<country>Belgium</country>,</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Breckpot, Jeroen" sort="Breckpot, Jeroen" uniqKey="Breckpot J" first="Jeroen" last="Breckpot">Jeroen Breckpot</name><affiliation wicri:level="1"><nlm:aff id="af6"><addr-line>Center for Human Genetics</addr-line>,<institution>University Hospital Leuven</institution>,<addr-line>Leuven</addr-line>,<country>Belgium</country>,</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Hofbeck, Michael" sort="Hofbeck, Michael" uniqKey="Hofbeck M" first="Michael" last="Hofbeck">Michael Hofbeck</name><affiliation wicri:level="1"><nlm:aff id="af7"><institution>University Hospital Tubingen</institution>,<addr-line>Tubingen</addr-line>,<country>Germany</country>,</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Lathrop, Mark" sort="Lathrop, Mark" uniqKey="Lathrop M" first="Mark" last="Lathrop">Mark Lathrop</name><affiliation wicri:level="1"><nlm:aff id="af8"><institution>Commissariat a l'Energie Atomique</institution>,<addr-line>Evry Cedex</addr-line>,<country>France</country>,</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Rauch, Anita" sort="Rauch, Anita" uniqKey="Rauch A" first="Anita" last="Rauch">Anita Rauch</name><affiliation wicri:level="1"><nlm:aff wicri:cut=" and" id="af9"><institution>Institute of Medical Genetics, University of Zurich</institution>,<addr-line>Zurich-Schwerzenbach</addr-line>,<country>Switzerland</country></nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Blue, Gillian M" sort="Blue, Gillian M" uniqKey="Blue G" first="Gillian M." last="Blue">Gillian M. Blue</name><affiliation wicri:level="1"><nlm:aff id="af10"><institution>Heart Centre for Children, The Children's Hospital at Westmead</institution>,<addr-line>Sydney</addr-line>,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Winlaw, David S" sort="Winlaw, David S" uniqKey="Winlaw D" first="David S." last="Winlaw">David S. Winlaw</name><affiliation wicri:level="1"><nlm:aff id="af10"><institution>Heart Centre for Children, The Children's Hospital at Westmead</institution>,<addr-line>Sydney</addr-line>,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Hurles, Matthew" sort="Hurles, Matthew" uniqKey="Hurles M" first="Matthew" last="Hurles">Matthew Hurles</name><affiliation wicri:level="1"><nlm:aff id="af2"><institution>Wellcome Trust Sanger Institute</institution>,<addr-line>Cambridge</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Santibanez Koref, Mauro" sort="Santibanez Koref, Mauro" uniqKey="Santibanez Koref M" first="Mauro" last="Santibanez-Koref">Mauro Santibanez-Koref</name><affiliation wicri:level="1"><nlm:aff id="af1"><institution>Institute of Genetic Medicine, Newcastle University</institution>,<addr-line>Newcastle</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cordell, Heather J" sort="Cordell, Heather J" uniqKey="Cordell H" first="Heather J." last="Cordell">Heather J. Cordell</name><affiliation wicri:level="1"><nlm:aff id="af1"><institution>Institute of Genetic Medicine, Newcastle University</institution>,<addr-line>Newcastle</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Goodship, Judith A" sort="Goodship, Judith A" uniqKey="Goodship J" first="Judith A." last="Goodship">Judith A. Goodship</name><affiliation wicri:level="1"><nlm:aff id="af1"><institution>Institute of Genetic Medicine, Newcastle University</institution>,<addr-line>Newcastle</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Keavney, Bernard D" sort="Keavney, Bernard D" uniqKey="Keavney B" first="Bernard D." last="Keavney">Bernard D. Keavney</name><affiliation wicri:level="1"><nlm:aff id="af1"><institution>Institute of Genetic Medicine, Newcastle University</institution>,<addr-line>Newcastle</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22199024</idno><idno type="pmc">3298277</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3298277</idno><idno type="RBID">PMC:3298277</idno><idno type="doi">10.1093/hmg/ddr589</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">002575</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002575</idno><idno type="wicri:Area/Pmc/Curation">002425</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002425</idno><idno type="wicri:Area/Pmc/Checkpoint">002212</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002212</idno><idno type="wicri:Area/Ncbi/Merge">000C65</idno><idno type="wicri:Area/Ncbi/Curation">000C65</idno><idno type="wicri:Area/Ncbi/Checkpoint">000C65</idno><idno type="wicri:doubleKey">0964-6906:2011:Soemedi R:phenotype:specific:effect</idno><idno type="wicri:Area/Main/Merge">006411</idno><idno type="wicri:Area/Main/Curation">006070</idno><idno type="wicri:Area/Main/Exploration">006070</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Phenotype-specific effect of chromosome 1q21.1 rearrangements and <italic>GJA5</italic> duplications in 2436 congenital heart disease patients and 6760 controls</title><author><name sortKey="Soemedi, Rachel" sort="Soemedi, Rachel" uniqKey="Soemedi R" first="Rachel" last="Soemedi">Rachel Soemedi</name><affiliation wicri:level="1"><nlm:aff id="af1"><institution>Institute of Genetic Medicine, Newcastle University</institution>,<addr-line>Newcastle</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Topf, Ana" sort="Topf, Ana" uniqKey="Topf A" first="Ana" last="Topf">Ana Topf</name><affiliation wicri:level="1"><nlm:aff id="af1"><institution>Institute of Genetic Medicine, Newcastle University</institution>,<addr-line>Newcastle</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Wilson, Ian J" sort="Wilson, Ian J" uniqKey="Wilson I" first="Ian J." last="Wilson">Ian J. Wilson</name><affiliation wicri:level="1"><nlm:aff id="af1"><institution>Institute of Genetic Medicine, Newcastle University</institution>,<addr-line>Newcastle</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Darlay, Rebecca" sort="Darlay, Rebecca" uniqKey="Darlay R" first="Rebecca" last="Darlay">Rebecca Darlay</name><affiliation wicri:level="1"><nlm:aff id="af1"><institution>Institute of Genetic Medicine, Newcastle University</institution>,<addr-line>Newcastle</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Rahman, Thahira" sort="Rahman, Thahira" uniqKey="Rahman T" first="Thahira" last="Rahman">Thahira Rahman</name><affiliation wicri:level="1"><nlm:aff id="af1"><institution>Institute of Genetic Medicine, Newcastle University</institution>,<addr-line>Newcastle</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Glen, Elise" sort="Glen, Elise" uniqKey="Glen E" first="Elise" last="Glen">Elise Glen</name><affiliation wicri:level="1"><nlm:aff id="af1"><institution>Institute of Genetic Medicine, Newcastle University</institution>,<addr-line>Newcastle</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Hall, Darroch" sort="Hall, Darroch" uniqKey="Hall D" first="Darroch" last="Hall">Darroch Hall</name><affiliation wicri:level="1"><nlm:aff id="af1"><institution>Institute of Genetic Medicine, Newcastle University</institution>,<addr-line>Newcastle</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Huang, Ni" sort="Huang, Ni" uniqKey="Huang N" first="Ni" last="Huang">Ni Huang</name><affiliation wicri:level="1"><nlm:aff id="af2"><institution>Wellcome Trust Sanger Institute</institution>,<addr-line>Cambridge</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Bentham, Jamie" sort="Bentham, Jamie" uniqKey="Bentham J" first="Jamie" last="Bentham">Jamie Bentham</name><affiliation wicri:level="1"><nlm:aff id="af3"><addr-line>Department of Cardiovascular Medicine</addr-line>,<institution>University of Oxford</institution>,<addr-line>Oxford</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Bhattacharya, Shoumo" sort="Bhattacharya, Shoumo" uniqKey="Bhattacharya S" first="Shoumo" last="Bhattacharya">Shoumo Bhattacharya</name><affiliation wicri:level="1"><nlm:aff id="af3"><addr-line>Department of Cardiovascular Medicine</addr-line>,<institution>University of Oxford</institution>,<addr-line>Oxford</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cosgrove, Catherine" sort="Cosgrove, Catherine" uniqKey="Cosgrove C" first="Catherine" last="Cosgrove">Catherine Cosgrove</name><affiliation wicri:level="1"><nlm:aff id="af3"><addr-line>Department of Cardiovascular Medicine</addr-line>,<institution>University of Oxford</institution>,<addr-line>Oxford</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Brook, J David" sort="Brook, J David" uniqKey="Brook J" first="J. David" last="Brook">J. David Brook</name><affiliation wicri:level="1"><nlm:aff id="af4"><addr-line>School of Biology</addr-line>,<institution>University of Nottingham</institution>,<addr-line>Nottingham</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Granados Riveron, Javier" sort="Granados Riveron, Javier" uniqKey="Granados Riveron J" first="Javier" last="Granados-Riveron">Javier Granados-Riveron</name><affiliation wicri:level="1"><nlm:aff id="af4"><addr-line>School of Biology</addr-line>,<institution>University of Nottingham</institution>,<addr-line>Nottingham</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Setchfield, Kerry" sort="Setchfield, Kerry" uniqKey="Setchfield K" first="Kerry" last="Setchfield">Kerry Setchfield</name><affiliation wicri:level="1"><nlm:aff id="af4"><addr-line>School of Biology</addr-line>,<institution>University of Nottingham</institution>,<addr-line>Nottingham</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Bu Lock, Frances" sort="Bu Lock, Frances" uniqKey="Bu Lock F" first="Frances" last="Bu'Lock">Frances Bu'Lock</name><affiliation wicri:level="1"><nlm:aff id="af5"><institution>East Midlands Congenital Heart Center</institution>,<addr-line>Leicester</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Thornborough, Chris" sort="Thornborough, Chris" uniqKey="Thornborough C" first="Chris" last="Thornborough">Chris Thornborough</name><affiliation wicri:level="1"><nlm:aff id="af5"><institution>East Midlands Congenital Heart Center</institution>,<addr-line>Leicester</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Devriendt, Koenraad" sort="Devriendt, Koenraad" uniqKey="Devriendt K" first="Koenraad" last="Devriendt">Koenraad Devriendt</name><affiliation wicri:level="1"><nlm:aff id="af6"><addr-line>Center for Human Genetics</addr-line>,<institution>University Hospital Leuven</institution>,<addr-line>Leuven</addr-line>,<country>Belgium</country>,</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Breckpot, Jeroen" sort="Breckpot, Jeroen" uniqKey="Breckpot J" first="Jeroen" last="Breckpot">Jeroen Breckpot</name><affiliation wicri:level="1"><nlm:aff id="af6"><addr-line>Center for Human Genetics</addr-line>,<institution>University Hospital Leuven</institution>,<addr-line>Leuven</addr-line>,<country>Belgium</country>,</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Hofbeck, Michael" sort="Hofbeck, Michael" uniqKey="Hofbeck M" first="Michael" last="Hofbeck">Michael Hofbeck</name><affiliation wicri:level="1"><nlm:aff id="af7"><institution>University Hospital Tubingen</institution>,<addr-line>Tubingen</addr-line>,<country>Germany</country>,</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Lathrop, Mark" sort="Lathrop, Mark" uniqKey="Lathrop M" first="Mark" last="Lathrop">Mark Lathrop</name><affiliation wicri:level="1"><nlm:aff id="af8"><institution>Commissariat a l'Energie Atomique</institution>,<addr-line>Evry Cedex</addr-line>,<country>France</country>,</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Rauch, Anita" sort="Rauch, Anita" uniqKey="Rauch A" first="Anita" last="Rauch">Anita Rauch</name><affiliation wicri:level="1"><nlm:aff wicri:cut=" and" id="af9"><institution>Institute of Medical Genetics, University of Zurich</institution>,<addr-line>Zurich-Schwerzenbach</addr-line>,<country>Switzerland</country></nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Blue, Gillian M" sort="Blue, Gillian M" uniqKey="Blue G" first="Gillian M." last="Blue">Gillian M. Blue</name><affiliation wicri:level="1"><nlm:aff id="af10"><institution>Heart Centre for Children, The Children's Hospital at Westmead</institution>,<addr-line>Sydney</addr-line>,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Winlaw, David S" sort="Winlaw, David S" uniqKey="Winlaw D" first="David S." last="Winlaw">David S. Winlaw</name><affiliation wicri:level="1"><nlm:aff id="af10"><institution>Heart Centre for Children, The Children's Hospital at Westmead</institution>,<addr-line>Sydney</addr-line>,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Hurles, Matthew" sort="Hurles, Matthew" uniqKey="Hurles M" first="Matthew" last="Hurles">Matthew Hurles</name><affiliation wicri:level="1"><nlm:aff id="af2"><institution>Wellcome Trust Sanger Institute</institution>,<addr-line>Cambridge</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Santibanez Koref, Mauro" sort="Santibanez Koref, Mauro" uniqKey="Santibanez Koref M" first="Mauro" last="Santibanez-Koref">Mauro Santibanez-Koref</name><affiliation wicri:level="1"><nlm:aff id="af1"><institution>Institute of Genetic Medicine, Newcastle University</institution>,<addr-line>Newcastle</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cordell, Heather J" sort="Cordell, Heather J" uniqKey="Cordell H" first="Heather J." last="Cordell">Heather J. Cordell</name><affiliation wicri:level="1"><nlm:aff id="af1"><institution>Institute of Genetic Medicine, Newcastle University</institution>,<addr-line>Newcastle</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Goodship, Judith A" sort="Goodship, Judith A" uniqKey="Goodship J" first="Judith A." last="Goodship">Judith A. Goodship</name><affiliation wicri:level="1"><nlm:aff id="af1"><institution>Institute of Genetic Medicine, Newcastle University</institution>,<addr-line>Newcastle</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Keavney, Bernard D" sort="Keavney, Bernard D" uniqKey="Keavney B" first="Bernard D." last="Keavney">Bernard D. Keavney</name><affiliation wicri:level="1"><nlm:aff id="af1"><institution>Institute of Genetic Medicine, Newcastle University</institution>,<addr-line>Newcastle</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></analytic><series><title level="j">Human Molecular Genetics</title><idno type="ISSN">0964-6906</idno><idno type="eISSN">1460-2083</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Recurrent rearrangements of chromosome 1q21.1 that occur via non-allelic homologous recombination have been associated with variable phenotypes exhibiting incomplete penetrance, including congenital heart disease (CHD). However, the gene or genes within the ∼1 Mb critical region responsible for each of the associated phenotypes remains unknown. We examined the 1q21.1 locus in 948 patients with tetralogy of Fallot (TOF), 1488 patients with other forms of CHD and 6760 ethnically matched controls using single nucleotide polymorphism genotyping arrays (Illumina 660W and Affymetrix 6.0) and multiplex ligation-dependent probe amplification. We found that duplication of 1q21.1 was more common in cases of TOF than in controls [odds ratio (OR) 30.9, 95% confidence interval (CI) 8.9–107.6); <italic>P</italic> = 2.2 × 10<sup>−7</sup>], but deletion was not. In contrast, deletion of 1q21.1 was more common in cases of non-TOF CHD than in controls [OR 5.5 (95% CI 1.4–22.0); <italic>P</italic> = 0.04] while duplication was not. We also detected rare (<italic>n</italic> = 3) 100–200 kb duplications within the critical region of 1q21.1 in cases of TOF. These small duplications encompassed a single gene in common, <italic>GJA5</italic>, and were enriched in cases of TOF in comparison to controls [OR = 10.7 (95% CI 1.8–64.3), <italic>P</italic> = 0.01]. These findings show that duplication and deletion at chromosome 1q21.1 exhibit a degree of phenotypic specificity in CHD, and implicate <italic>GJA5</italic> as the gene responsible for the CHD phenotypes observed with copy number imbalances at this locus.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Hoffman, J I" uniqKey="Hoffman J">J.I. Hoffman</name></author><author><name sortKey="Kaplan, S" uniqKey="Kaplan S">S. Kaplan</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ryan, A K" uniqKey="Ryan A">A.K. Ryan</name></author><author><name sortKey="Goodship, J A" uniqKey="Goodship J">J.A. Goodship</name></author><author><name sortKey="Wilson, D I" uniqKey="Wilson D">D.I. 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Daly</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Belgique</li><li>France</li><li>Royaume-Uni</li><li>Suisse</li></country></list><tree><country name="Royaume-Uni"><noRegion><name sortKey="Soemedi, Rachel" sort="Soemedi, Rachel" uniqKey="Soemedi R" first="Rachel" last="Soemedi">Rachel Soemedi</name></noRegion><name sortKey="Bentham, Jamie" sort="Bentham, Jamie" uniqKey="Bentham J" first="Jamie" last="Bentham">Jamie Bentham</name><name sortKey="Bhattacharya, Shoumo" sort="Bhattacharya, Shoumo" uniqKey="Bhattacharya S" first="Shoumo" last="Bhattacharya">Shoumo Bhattacharya</name><name sortKey="Brook, J David" sort="Brook, J David" uniqKey="Brook J" first="J. David" last="Brook">J. David Brook</name><name sortKey="Bu Lock, Frances" sort="Bu Lock, Frances" uniqKey="Bu Lock F" first="Frances" last="Bu'Lock">Frances Bu'Lock</name><name sortKey="Cordell, Heather J" sort="Cordell, Heather J" uniqKey="Cordell H" first="Heather J." last="Cordell">Heather J. Cordell</name><name sortKey="Cosgrove, Catherine" sort="Cosgrove, Catherine" uniqKey="Cosgrove C" first="Catherine" last="Cosgrove">Catherine Cosgrove</name><name sortKey="Darlay, Rebecca" sort="Darlay, Rebecca" uniqKey="Darlay R" first="Rebecca" last="Darlay">Rebecca Darlay</name><name sortKey="Glen, Elise" sort="Glen, Elise" uniqKey="Glen E" first="Elise" last="Glen">Elise Glen</name><name sortKey="Goodship, Judith A" sort="Goodship, Judith A" uniqKey="Goodship J" first="Judith A." last="Goodship">Judith A. Goodship</name><name sortKey="Granados Riveron, Javier" sort="Granados Riveron, Javier" uniqKey="Granados Riveron J" first="Javier" last="Granados-Riveron">Javier Granados-Riveron</name><name sortKey="Hall, Darroch" sort="Hall, Darroch" uniqKey="Hall D" first="Darroch" last="Hall">Darroch Hall</name><name sortKey="Huang, Ni" sort="Huang, Ni" uniqKey="Huang N" first="Ni" last="Huang">Ni Huang</name><name sortKey="Hurles, Matthew" sort="Hurles, Matthew" uniqKey="Hurles M" first="Matthew" last="Hurles">Matthew Hurles</name><name sortKey="Keavney, Bernard D" sort="Keavney, Bernard D" uniqKey="Keavney B" first="Bernard D." last="Keavney">Bernard D. Keavney</name><name sortKey="Rahman, Thahira" sort="Rahman, Thahira" uniqKey="Rahman T" first="Thahira" last="Rahman">Thahira Rahman</name><name sortKey="Santibanez Koref, Mauro" sort="Santibanez Koref, Mauro" uniqKey="Santibanez Koref M" first="Mauro" last="Santibanez-Koref">Mauro Santibanez-Koref</name><name sortKey="Setchfield, Kerry" sort="Setchfield, Kerry" uniqKey="Setchfield K" first="Kerry" last="Setchfield">Kerry Setchfield</name><name sortKey="Thornborough, Chris" sort="Thornborough, Chris" uniqKey="Thornborough C" first="Chris" last="Thornborough">Chris Thornborough</name><name sortKey="Topf, Ana" sort="Topf, Ana" uniqKey="Topf A" first="Ana" last="Topf">Ana Topf</name><name sortKey="Wilson, Ian J" sort="Wilson, Ian J" uniqKey="Wilson I" first="Ian J." last="Wilson">Ian J. Wilson</name></country><country name="Belgique"><noRegion><name sortKey="Devriendt, Koenraad" sort="Devriendt, Koenraad" uniqKey="Devriendt K" first="Koenraad" last="Devriendt">Koenraad Devriendt</name></noRegion><name sortKey="Breckpot, Jeroen" sort="Breckpot, Jeroen" uniqKey="Breckpot J" first="Jeroen" last="Breckpot">Jeroen Breckpot</name></country><country name="Allemagne"><noRegion><name sortKey="Hofbeck, Michael" sort="Hofbeck, Michael" uniqKey="Hofbeck M" first="Michael" last="Hofbeck">Michael Hofbeck</name></noRegion></country><country name="France"><noRegion><name sortKey="Lathrop, Mark" sort="Lathrop, Mark" uniqKey="Lathrop M" first="Mark" last="Lathrop">Mark Lathrop</name></noRegion></country><country name="Suisse"><noRegion><name sortKey="Rauch, Anita" sort="Rauch, Anita" uniqKey="Rauch A" first="Anita" last="Rauch">Anita Rauch</name></noRegion></country><country name="Australie"><noRegion><name sortKey="Blue, Gillian M" sort="Blue, Gillian M" uniqKey="Blue G" first="Gillian M." last="Blue">Gillian M. Blue</name></noRegion><name sortKey="Winlaw, David S" sort="Winlaw, David S" uniqKey="Winlaw D" first="David S." last="Winlaw">David S. Winlaw</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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