Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
Identifieur interne : 004A01 ( PascalFrancis/Curation ); précédent : 004A00; suivant : 004A02Phenotype-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 : (Print) [ 0964-6906 ] ; 2012.
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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 1 q21.1 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); P = 2.2 x 10-7], 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); P = 0.04] while duplication was not. We also detected rare (n = 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, GJA5, and were enriched in cases of TOF in comparison to controls [OR = 10.7 (95% CI 1.8-64.3), P = 0.01]. These findings show that duplication and deletion at chromosome 1q21.1 exhibit a degree of phenotypic specificity in CHD, and implicate GJA5 as the gene responsible for the CHD phenotypes observed with copy number imbalances at this locus.
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David" last="Brook">J. David Brook</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>School of Biology, University of Nottingham</s1><s2>Nottingham</s2><s3>GBR</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="04"><s1>School of Biology, University of Nottingham</s1><s2>Nottingham</s2><s3>GBR</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Setchfield, Kerry" sort="Setchfield, Kerry" uniqKey="Setchfield K" first="Kerry" last="Setchfield">Kerry Setchfield</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>School of Biology, University of Nottingham</s1><s2>Nottingham</s2><s3>GBR</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="05"><s1>East Midlands Congenital Heart Center</s1><s2>Leicester</s2><s3>GBR</s3><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Thornborough, Chris" sort="Thornborough, Chris" uniqKey="Thornborough C" first="Chris" last="Thornborough">Chris Thornborough</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>East Midlands Congenital Heart Center</s1><s2>Leicester</s2><s3>GBR</s3><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Devriendt, Koenraad" sort="Devriendt, Koenraad" uniqKey="Devriendt K" first="Koenraad" last="Devriendt">Koenraad Devriendt</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Center for Human Genetics, University Hospital Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Belgique</country></affiliation></author><author><name sortKey="Breckpot, Jeroen" sort="Breckpot, Jeroen" uniqKey="Breckpot J" first="Jeroen" last="Breckpot">Jeroen Breckpot</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Center for Human Genetics, University Hospital Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Belgique</country></affiliation></author><author><name sortKey="Hofbeck, Michael" sort="Hofbeck, Michael" uniqKey="Hofbeck M" first="Michael" last="Hofbeck">Michael Hofbeck</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>University Hospital Tubingen</s1><s2>Tubingen</s2><s3>DEU</s3><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Lathrop, Mark" sort="Lathrop, Mark" uniqKey="Lathrop M" first="Mark" last="Lathrop">Mark Lathrop</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Commissariat a I'Energie Atomique</s1><s2>Evry</s2><s3>FRA</s3><sZ>20 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Rauch, Anita" sort="Rauch, Anita" uniqKey="Rauch A" first="Anita" last="Rauch">Anita Rauch</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Institute of Medical Genetics, University of Zurich</s1><s2>Zurich-Schwerzenbach</s2><s3>CHE</s3><sZ>21 aut.</sZ></inist:fA14><country>Suisse</country></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"><inist:fA14 i1="10"><s1>Heart Centre for Children, The Children's Hospital at Westmead</s1><s2>Sydney</s2><s3>AUS</s3><sZ>22 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Australie</country></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"><inist:fA14 i1="10"><s1>Heart Centre for Children, The Children's Hospital at Westmead</s1><s2>Sydney</s2><s3>AUS</s3><sZ>22 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Australie</country></affiliation></author><author><name sortKey="Hurles, Matthew" sort="Hurles, Matthew" uniqKey="Hurles M" first="Matthew" last="Hurles">Matthew Hurles</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Wellcome Trust Sanger Institute</s1><s2>Cambridge</s2><s3>GBR</s3><sZ>8 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1><s2>Newcastle</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1><s2>Newcastle</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1><s2>Newcastle</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1><s2>Newcastle</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">12-0146760</idno><date when="2012">2012</date><idno type="stanalyst">PASCAL 12-0146760 INIST</idno><idno type="RBID">Pascal:12-0146760</idno><idno type="wicri:Area/PascalFrancis/Corpus">001511</idno><idno type="wicri:Area/PascalFrancis/Curation">004A01</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 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"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1><s2>Newcastle</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Topf, Ana" sort="Topf, Ana" uniqKey="Topf A" first="Ana" last="Topf">Ana Topf</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1><s2>Newcastle</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1><s2>Newcastle</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Darlay, Rebecca" sort="Darlay, Rebecca" uniqKey="Darlay R" first="Rebecca" last="Darlay">Rebecca Darlay</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1><s2>Newcastle</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Rahman, Thahira" sort="Rahman, Thahira" uniqKey="Rahman T" first="Thahira" last="Rahman">Thahira Rahman</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1><s2>Newcastle</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Glen, Elise" sort="Glen, Elise" uniqKey="Glen E" first="Elise" last="Glen">Elise Glen</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1><s2>Newcastle</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Hall, Darroch" sort="Hall, Darroch" uniqKey="Hall D" first="Darroch" last="Hall">Darroch Hall</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1><s2>Newcastle</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Ni Huang" sort="Ni Huang" uniqKey="Ni Huang" last="Ni Huang">NI HUANG</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Wellcome Trust Sanger Institute</s1><s2>Cambridge</s2><s3>GBR</s3><sZ>8 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Bentham, Jamie" sort="Bentham, Jamie" uniqKey="Bentham J" first="Jamie" last="Bentham">Jamie Bentham</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Cardiovascular Medicine, University of Oxford</s1><s2>Oxford</s2><s3>GBR</s3><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Bhattacharya, Shoumo" sort="Bhattacharya, Shoumo" uniqKey="Bhattacharya S" first="Shoumo" last="Bhattacharya">Shoumo Bhattacharya</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Cardiovascular Medicine, University of Oxford</s1><s2>Oxford</s2><s3>GBR</s3><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Cosgrove, Catherine" sort="Cosgrove, Catherine" uniqKey="Cosgrove C" first="Catherine" last="Cosgrove">Catherine Cosgrove</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Cardiovascular Medicine, University of Oxford</s1><s2>Oxford</s2><s3>GBR</s3><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="04"><s1>School of Biology, University of Nottingham</s1><s2>Nottingham</s2><s3>GBR</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="04"><s1>School of Biology, University of Nottingham</s1><s2>Nottingham</s2><s3>GBR</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Setchfield, Kerry" sort="Setchfield, Kerry" uniqKey="Setchfield K" first="Kerry" last="Setchfield">Kerry Setchfield</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>School of Biology, University of Nottingham</s1><s2>Nottingham</s2><s3>GBR</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="05"><s1>East Midlands Congenital Heart Center</s1><s2>Leicester</s2><s3>GBR</s3><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Thornborough, Chris" sort="Thornborough, Chris" uniqKey="Thornborough C" first="Chris" last="Thornborough">Chris Thornborough</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>East Midlands Congenital Heart Center</s1><s2>Leicester</s2><s3>GBR</s3><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Devriendt, Koenraad" sort="Devriendt, Koenraad" uniqKey="Devriendt K" first="Koenraad" last="Devriendt">Koenraad Devriendt</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Center for Human Genetics, University Hospital Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Belgique</country></affiliation></author><author><name sortKey="Breckpot, Jeroen" sort="Breckpot, Jeroen" uniqKey="Breckpot J" first="Jeroen" last="Breckpot">Jeroen Breckpot</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Center for Human Genetics, University Hospital Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Belgique</country></affiliation></author><author><name sortKey="Hofbeck, Michael" sort="Hofbeck, Michael" uniqKey="Hofbeck M" first="Michael" last="Hofbeck">Michael Hofbeck</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>University Hospital Tubingen</s1><s2>Tubingen</s2><s3>DEU</s3><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Lathrop, Mark" sort="Lathrop, Mark" uniqKey="Lathrop M" first="Mark" last="Lathrop">Mark Lathrop</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Commissariat a I'Energie Atomique</s1><s2>Evry</s2><s3>FRA</s3><sZ>20 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Rauch, Anita" sort="Rauch, Anita" uniqKey="Rauch A" first="Anita" last="Rauch">Anita Rauch</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Institute of Medical Genetics, University of Zurich</s1><s2>Zurich-Schwerzenbach</s2><s3>CHE</s3><sZ>21 aut.</sZ></inist:fA14><country>Suisse</country></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"><inist:fA14 i1="10"><s1>Heart Centre for Children, The Children's Hospital at Westmead</s1><s2>Sydney</s2><s3>AUS</s3><sZ>22 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Australie</country></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"><inist:fA14 i1="10"><s1>Heart Centre for Children, The Children's Hospital at Westmead</s1><s2>Sydney</s2><s3>AUS</s3><sZ>22 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Australie</country></affiliation></author><author><name sortKey="Hurles, Matthew" sort="Hurles, Matthew" uniqKey="Hurles M" first="Matthew" last="Hurles">Matthew Hurles</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Wellcome Trust Sanger Institute</s1><s2>Cambridge</s2><s3>GBR</s3><sZ>8 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1><s2>Newcastle</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1><s2>Newcastle</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1><s2>Newcastle</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1><s2>Newcastle</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author></analytic><series><title level="j" type="main">Human molecular genetics : (Print)</title><title level="j" type="abbreviated">Hum. mol. genet. : (Print)</title><idno type="ISSN">0964-6906</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Human molecular genetics : (Print)</title><title level="j" type="abbreviated">Hum. mol. genet. : (Print)</title><idno type="ISSN">0964-6906</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromosome</term><term>Congenital cardiopathy</term><term>Duplication</term><term>Gene rearrangement</term><term>Genetics</term><term>Human</term><term>Phenotype</term><term>Regulation(control)</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Phénotype</term><term>Chromosome</term><term>Génétique</term><term>Réarrangement génique</term><term>Duplication</term><term>Homme</term><term>Régulation</term><term>Cardiopathie congénitale</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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 1 q21.1 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); P = 2.2 x 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); P = 0.04] while duplication was not. We also detected rare (n = 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, GJA5, and were enriched in cases of TOF in comparison to controls [OR = 10.7 (95% CI 1.8-64.3), P = 0.01]. These findings show that duplication and deletion at chromosome 1q21.1 exhibit a degree of phenotypic specificity in CHD, and implicate GJA5 as the gene responsible for the CHD phenotypes observed with copy number imbalances at this locus.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0964-6906</s0></fA01><fA03 i2="1"><s0>Hum. mol. genet. : (Print)</s0></fA03><fA05><s2>21</s2></fA05><fA06><s2>7</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls</s1></fA08><fA11 i1="01" i2="1"><s1>SOEMEDI (Rachel)</s1></fA11><fA11 i1="02" i2="1"><s1>TOPF (Ana)</s1></fA11><fA11 i1="03" i2="1"><s1>WILSON (Ian J.)</s1></fA11><fA11 i1="04" i2="1"><s1>DARLAY (Rebecca)</s1></fA11><fA11 i1="05" i2="1"><s1>RAHMAN (Thahira)</s1></fA11><fA11 i1="06" i2="1"><s1>GLEN (Elise)</s1></fA11><fA11 i1="07" i2="1"><s1>HALL (Darroch)</s1></fA11><fA11 i1="08" i2="1"><s1>NI HUANG</s1></fA11><fA11 i1="09" i2="1"><s1>BENTHAM (Jamie)</s1></fA11><fA11 i1="10" i2="1"><s1>BHATTACHARYA (Shoumo)</s1></fA11><fA11 i1="11" i2="1"><s1>COSGROVE (Catherine)</s1></fA11><fA11 i1="12" i2="1"><s1>BROOK (J. David)</s1></fA11><fA11 i1="13" i2="1"><s1>GRANADOS-RIVERON (Javier)</s1></fA11><fA11 i1="14" i2="1"><s1>SETCHFIELD (Kerry)</s1></fA11><fA11 i1="15" i2="1"><s1>BU'LOCK (Frances)</s1></fA11><fA11 i1="16" i2="1"><s1>THORNBOROUGH (Chris)</s1></fA11><fA11 i1="17" i2="1"><s1>DEVRIENDT (Koenraad)</s1></fA11><fA11 i1="18" i2="1"><s1>BRECKPOT (Jeroen)</s1></fA11><fA11 i1="19" i2="1"><s1>HOFBECK (Michael)</s1></fA11><fA11 i1="20" i2="1"><s1>LATHROP (Mark)</s1></fA11><fA11 i1="21" i2="1"><s1>RAUCH (Anita)</s1></fA11><fA11 i1="22" i2="1"><s1>BLUE (Gillian M.)</s1></fA11><fA11 i1="23" i2="1"><s1>WINLAW (David S.)</s1></fA11><fA11 i1="24" i2="1"><s1>HURLES (Matthew)</s1></fA11><fA11 i1="25" i2="1"><s1>SANTIBANEZ-KOREF (Mauro)</s1></fA11><fA11 i1="26" i2="1"><s1>CORDELL (Heather J.)</s1></fA11><fA11 i1="27" i2="1"><s1>GOODSHIP (Judith A.)</s1></fA11><fA11 i1="28" i2="1"><s1>KEAVNEY (Bernard D.)</s1></fA11><fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1><s2>Newcastle</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ></fA14><fA14 i1="02"><s1>Wellcome Trust Sanger Institute</s1><s2>Cambridge</s2><s3>GBR</s3><sZ>8 aut.</sZ><sZ>24 aut.</sZ></fA14><fA14 i1="03"><s1>Department of Cardiovascular Medicine, University of Oxford</s1><s2>Oxford</s2><s3>GBR</s3><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></fA14><fA14 i1="04"><s1>School of Biology, University of Nottingham</s1><s2>Nottingham</s2><s3>GBR</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></fA14><fA14 i1="05"><s1>East Midlands Congenital Heart Center</s1><s2>Leicester</s2><s3>GBR</s3><sZ>15 aut.</sZ><sZ>16 aut.</sZ></fA14><fA14 i1="06"><s1>Center for Human Genetics, University Hospital Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></fA14><fA14 i1="07"><s1>University Hospital Tubingen</s1><s2>Tubingen</s2><s3>DEU</s3><sZ>19 aut.</sZ></fA14><fA14 i1="08"><s1>Commissariat a I'Energie Atomique</s1><s2>Evry</s2><s3>FRA</s3><sZ>20 aut.</sZ></fA14><fA14 i1="09"><s1>Institute of Medical Genetics, University of Zurich</s1><s2>Zurich-Schwerzenbach</s2><s3>CHE</s3><sZ>21 aut.</sZ></fA14><fA14 i1="10"><s1>Heart Centre for Children, The Children's Hospital at Westmead</s1><s2>Sydney</s2><s3>AUS</s3><sZ>22 aut.</sZ><sZ>23 aut.</sZ></fA14><fA20><s1>1513-1520</s1></fA20><fA21><s1>2012</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>22540</s2><s5>354000502897690060</s5></fA43><fA44><s0>0000</s0><s1>© 2012 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>42 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>12-0146760</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Human molecular genetics : (Print)</s0></fA64><fA66 i1="01"><s0>GBR</s0></fA66><fC01 i1="01" l="ENG"><s0>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 1 q21.1 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); P = 2.2 x 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); P = 0.04] while duplication was not. We also detected rare (n = 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, GJA5, and were enriched in cases of TOF in comparison to controls [OR = 10.7 (95% CI 1.8-64.3), P = 0.01]. These findings show that duplication and deletion at chromosome 1q21.1 exhibit a degree of phenotypic specificity in CHD, and implicate GJA5 as the gene responsible for the CHD phenotypes observed with copy number imbalances at this locus.</s0></fC01><fC02 i1="01" i2="X"><s0>002A04</s0></fC02><fC02 i1="02" i2="X"><s0>002A07</s0></fC02><fC02 i1="03" i2="X"><s0>002B12A08</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Phénotype</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Phenotype</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Fenotipo</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Chromosome</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Chromosome</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Cromosoma</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Génétique</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Genetics</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Genética</s0><s5>03</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Réarrangement génique</s0><s5>04</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Gene rearrangement</s0><s5>04</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Redisposición génica</s0><s5>04</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Duplication</s0><s5>05</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Duplication</s0><s5>05</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Duplicación</s0><s5>05</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Homme</s0><s5>06</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Human</s0><s5>06</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Hombre</s0><s5>06</s5></fC03><fC03 i1="07" i2="X" l="FRE"><s0>Régulation</s0><s5>07</s5></fC03><fC03 i1="07" i2="X" l="ENG"><s0>Regulation(control)</s0><s5>07</s5></fC03><fC03 i1="07" i2="X" l="SPA"><s0>Regulación</s0><s5>07</s5></fC03><fC03 i1="08" i2="X" l="FRE"><s0>Cardiopathie congénitale</s0><s2>NM</s2><s5>14</s5></fC03><fC03 i1="08" i2="X" l="ENG"><s0>Congenital cardiopathy</s0><s2>NM</s2><s5>14</s5></fC03><fC03 i1="08" i2="X" l="SPA"><s0>Cardiopathía congénita</s0><s2>NM</s2><s5>14</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'appareil circulatoire</s0><s5>19</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Cardiovascular disease</s0><s5>19</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Aparato circulatorio patología</s0><s5>19</s5></fC07><fN21><s1>114</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist></record>Pour manipuler ce document sous Unix (Dilib)
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