Autosomal and X Chromosome Structural Variants Are Associated with Congenital Heart Defects in Turner Syndrome: The NHLBI GenTAC Registry
Identifieur interne : 003501 ( Pmc/Corpus ); précédent : 003500; suivant : 003502Autosomal and X Chromosome Structural Variants Are Associated with Congenital Heart Defects in Turner Syndrome: The NHLBI GenTAC Registry
Auteurs : Siddharth K. Prakash ; Carolyn A. Bondy ; Cheryl L. Maslen ; Michael Silberbach ; Angela E. Lin ; Laura Perrone ; Giuseppe Limongelli ; Hector I. Michelena ; Eduardo Bossone ; Rodolfo Citro ; Scott A. Lemaire ; Simon C. Body ; Dianna M. MilewiczSource :
- American journal of medical genetics. Part A [ 1552-4825 ] ; 2016.
Abstract
Turner Syndrome (TS) is a developmental disorder caused by partial or complete loss of one sex chromosome. Bicuspid aortic valve and other left-sided congenital heart lesions (LSL), including thoracic aortic aneurysms and acute aortic dissections, are 30-50 times more frequent in TS than in the general population. In 454 TS subjects, we found that LSL are significantly associated with reduced dosage of Xp genes and increased dosage of Xq genes. We also showed that genome-wide copy number variation is increased in TS and identify a common copy number variant (CNV) in chromosome 12p13.31 that is associated with LSL with an odds ratio of 3.7. This CNV contains three protein-coding genes (
Url:
DOI: 10.1002/ajmg.a.37953
PubMed: 27604636
PubMed Central: 5115959
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Bondy</name><affiliation><nlm:aff id="A2">National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20817 USA.</nlm:aff></affiliation></author><author><name sortKey="Maslen, Cheryl L" sort="Maslen, Cheryl L" uniqKey="Maslen C" first="Cheryl L." last="Maslen">Cheryl L. Maslen</name><affiliation><nlm:aff id="A3">Departments of Molecular and Medical Genetics and Pediatrics, Oregon Health & Science University, Portland, OR 97239 USA.</nlm:aff></affiliation></author><author><name sortKey="Silberbach, Michael" sort="Silberbach, Michael" uniqKey="Silberbach M" first="Michael" last="Silberbach">Michael Silberbach</name><affiliation><nlm:aff id="A3">Departments of Molecular and Medical Genetics and Pediatrics, Oregon Health & Science University, Portland, OR 97239 USA.</nlm:aff></affiliation></author><author><name sortKey="Lin, Angela E" sort="Lin, Angela E" uniqKey="Lin A" first="Angela E." last="Lin">Angela E. Lin</name><affiliation><nlm:aff id="A4">Department of Medical Genetics, MassGeneral Hospital for Children, Boston, MA 02114 USA.</nlm:aff></affiliation></author><author><name sortKey="Perrone, Laura" sort="Perrone, Laura" uniqKey="Perrone L" first="Laura" last="Perrone">Laura Perrone</name><affiliation><nlm:aff id="A5">Department of Pediatrics “F. Fede”, Seconda Università degli Studi di Napoli, Via Luigi De Crecchio 2, 80138, Naples, Italy.</nlm:aff></affiliation></author><author><name sortKey="Limongelli, Giuseppe" sort="Limongelli, Giuseppe" uniqKey="Limongelli G" first="Giuseppe" last="Limongelli">Giuseppe Limongelli</name><affiliation><nlm:aff id="A5">Department of Pediatrics “F. Fede”, Seconda Università degli Studi di Napoli, Via Luigi De Crecchio 2, 80138, Naples, Italy.</nlm:aff></affiliation></author><author><name sortKey="Michelena, Hector I" sort="Michelena, Hector I" uniqKey="Michelena H" first="Hector I." last="Michelena">Hector I. Michelena</name><affiliation><nlm:aff id="A6">Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN 55905 USA.</nlm:aff></affiliation></author><author><name sortKey="Bossone, Eduardo" sort="Bossone, Eduardo" uniqKey="Bossone E" first="Eduardo" last="Bossone">Eduardo Bossone</name><affiliation><nlm:aff id="A7">Department of Cardiology and Cardiac Surgery, University Hospital “Scuola Medica Salernitana”, Via Pr. Amedeo, 36-83023 Lauro (AV), Salerno, Italy.</nlm:aff></affiliation></author><author><name sortKey="Citro, Rodolfo" sort="Citro, Rodolfo" uniqKey="Citro R" first="Rodolfo" last="Citro">Rodolfo Citro</name><affiliation><nlm:aff id="A7">Department of Cardiology and Cardiac Surgery, University Hospital “Scuola Medica Salernitana”, Via Pr. Amedeo, 36-83023 Lauro (AV), Salerno, Italy.</nlm:aff></affiliation></author><author><name sortKey="Lemaire, Scott A" sort="Lemaire, Scott A" uniqKey="Lemaire S" first="Scott A." last="Lemaire">Scott A. Lemaire</name><affiliation><nlm:aff id="A8">Division of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, TX USA.</nlm:aff></affiliation></author><author><name sortKey="Body, Simon C" sort="Body, Simon C" uniqKey="Body S" first="Simon C." last="Body">Simon C. Body</name><affiliation><nlm:aff id="A9">Department of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.</nlm:aff></affiliation></author><author><name sortKey="Milewicz, Dianna M" sort="Milewicz, Dianna M" uniqKey="Milewicz D" first="Dianna M." last="Milewicz">Dianna M. Milewicz</name><affiliation><nlm:aff id="A1">Department of Internal Medicine, Division of Medical Genetics, University of Texas Health Science Center at Houston, Houston, TX 77030 USA.</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27604636</idno><idno type="pmc">5115959</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5115959</idno><idno type="RBID">PMC:5115959</idno><idno type="doi">10.1002/ajmg.a.37953</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">003501</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">003501</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Autosomal and X Chromosome Structural Variants Are Associated with Congenital Heart Defects in Turner Syndrome: The NHLBI GenTAC Registry</title><author><name sortKey="Prakash, Siddharth K" sort="Prakash, Siddharth K" uniqKey="Prakash S" first="Siddharth K." last="Prakash">Siddharth K. Prakash</name><affiliation><nlm:aff id="A1">Department of Internal Medicine, Division of Medical Genetics, University of Texas Health Science Center at Houston, Houston, TX 77030 USA.</nlm:aff></affiliation></author><author><name sortKey="Bondy, Carolyn A" sort="Bondy, Carolyn A" uniqKey="Bondy C" first="Carolyn A." last="Bondy">Carolyn A. Bondy</name><affiliation><nlm:aff id="A2">National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20817 USA.</nlm:aff></affiliation></author><author><name sortKey="Maslen, Cheryl L" sort="Maslen, Cheryl L" uniqKey="Maslen C" first="Cheryl L." last="Maslen">Cheryl L. Maslen</name><affiliation><nlm:aff id="A3">Departments of Molecular and Medical Genetics and Pediatrics, Oregon Health & Science University, Portland, OR 97239 USA.</nlm:aff></affiliation></author><author><name sortKey="Silberbach, Michael" sort="Silberbach, Michael" uniqKey="Silberbach M" first="Michael" last="Silberbach">Michael Silberbach</name><affiliation><nlm:aff id="A3">Departments of Molecular and Medical Genetics and Pediatrics, Oregon Health & Science University, Portland, OR 97239 USA.</nlm:aff></affiliation></author><author><name sortKey="Lin, Angela E" sort="Lin, Angela E" uniqKey="Lin A" first="Angela E." last="Lin">Angela E. Lin</name><affiliation><nlm:aff id="A4">Department of Medical Genetics, MassGeneral Hospital for Children, Boston, MA 02114 USA.</nlm:aff></affiliation></author><author><name sortKey="Perrone, Laura" sort="Perrone, Laura" uniqKey="Perrone L" first="Laura" last="Perrone">Laura Perrone</name><affiliation><nlm:aff id="A5">Department of Pediatrics “F. Fede”, Seconda Università degli Studi di Napoli, Via Luigi De Crecchio 2, 80138, Naples, Italy.</nlm:aff></affiliation></author><author><name sortKey="Limongelli, Giuseppe" sort="Limongelli, Giuseppe" uniqKey="Limongelli G" first="Giuseppe" last="Limongelli">Giuseppe Limongelli</name><affiliation><nlm:aff id="A5">Department of Pediatrics “F. Fede”, Seconda Università degli Studi di Napoli, Via Luigi De Crecchio 2, 80138, Naples, Italy.</nlm:aff></affiliation></author><author><name sortKey="Michelena, Hector I" sort="Michelena, Hector I" uniqKey="Michelena H" first="Hector I." last="Michelena">Hector I. Michelena</name><affiliation><nlm:aff id="A6">Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN 55905 USA.</nlm:aff></affiliation></author><author><name sortKey="Bossone, Eduardo" sort="Bossone, Eduardo" uniqKey="Bossone E" first="Eduardo" last="Bossone">Eduardo Bossone</name><affiliation><nlm:aff id="A7">Department of Cardiology and Cardiac Surgery, University Hospital “Scuola Medica Salernitana”, Via Pr. Amedeo, 36-83023 Lauro (AV), Salerno, Italy.</nlm:aff></affiliation></author><author><name sortKey="Citro, Rodolfo" sort="Citro, Rodolfo" uniqKey="Citro R" first="Rodolfo" last="Citro">Rodolfo Citro</name><affiliation><nlm:aff id="A7">Department of Cardiology and Cardiac Surgery, University Hospital “Scuola Medica Salernitana”, Via Pr. Amedeo, 36-83023 Lauro (AV), Salerno, Italy.</nlm:aff></affiliation></author><author><name sortKey="Lemaire, Scott A" sort="Lemaire, Scott A" uniqKey="Lemaire S" first="Scott A." last="Lemaire">Scott A. Lemaire</name><affiliation><nlm:aff id="A8">Division of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, TX USA.</nlm:aff></affiliation></author><author><name sortKey="Body, Simon C" sort="Body, Simon C" uniqKey="Body S" first="Simon C." last="Body">Simon C. Body</name><affiliation><nlm:aff id="A9">Department of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.</nlm:aff></affiliation></author><author><name sortKey="Milewicz, Dianna M" sort="Milewicz, Dianna M" uniqKey="Milewicz D" first="Dianna M." last="Milewicz">Dianna M. Milewicz</name><affiliation><nlm:aff id="A1">Department of Internal Medicine, Division of Medical Genetics, University of Texas Health Science Center at Houston, Houston, TX 77030 USA.</nlm:aff></affiliation></author></analytic><series><title level="j">American journal of medical genetics. Part A</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Turner Syndrome (TS) is a developmental disorder caused by partial or complete loss of one sex chromosome. Bicuspid aortic valve and other left-sided congenital heart lesions (LSL), including thoracic aortic aneurysms and acute aortic dissections, are 30-50 times more frequent in TS than in the general population. In 454 TS subjects, we found that LSL are significantly associated with reduced dosage of Xp genes and increased dosage of Xq genes. We also showed that genome-wide copy number variation is increased in TS and identify a common copy number variant (CNV) in chromosome 12p13.31 that is associated with LSL with an odds ratio of 3.7. This CNV contains three protein-coding genes (<italic>SLC2A3</italic>, <italic>SLC2A14</italic> and <italic>NANOGP1</italic>) and was previously implicated in congenital heart defects in the 22q11 deletion syndrome. In addition, we identified a subset of rare and recurrent CNVs that are also enriched in non-syndromic BAV cases. These observations support our hypothesis that X chromosome and autosomal variants affecting cardiac developmental genes may interact to cause the increased prevalence of LSL in TS.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">101235741</journal-id><journal-id journal-id-type="pubmed-jr-id">32200</journal-id><journal-id journal-id-type="nlm-ta">Am J Med Genet A</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Med. Genet. A</journal-id><journal-title-group><journal-title>American journal of medical genetics. Part A</journal-title></journal-title-group><issn pub-type="ppub">1552-4825</issn><issn pub-type="epub">1552-4833</issn></journal-meta><article-meta><article-id pub-id-type="pmid">27604636</article-id><article-id pub-id-type="pmc">5115959</article-id><article-id pub-id-type="doi">10.1002/ajmg.a.37953</article-id><article-id pub-id-type="manuscript">NIHMS810384</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Autosomal and X Chromosome Structural Variants Are Associated with Congenital Heart Defects in Turner Syndrome: The NHLBI GenTAC Registry</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Prakash</surname><given-names>Siddharth K.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Bondy</surname><given-names>Carolyn A.</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Maslen</surname><given-names>Cheryl L.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Silberbach</surname><given-names>Michael</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Lin</surname><given-names>Angela E.</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Perrone</surname><given-names>Laura</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Limongelli</surname><given-names>Giuseppe</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Michelena</surname><given-names>Hector I.</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Bossone</surname><given-names>Eduardo</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Citro</surname><given-names>Rodolfo</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><collab>BAVCon Investigators</collab></contrib><contrib contrib-type="author"><collab>GenTAC Registry Investigators</collab></contrib><contrib contrib-type="author"><name><surname>Lemaire</surname><given-names>Scott A.</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Body</surname><given-names>Simon C.</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Milewicz</surname><given-names>Dianna M.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib></contrib-group><aff id="A1"><label>1</label>Department of Internal Medicine, Division of Medical Genetics, University of Texas Health Science Center at Houston, Houston, TX 77030 USA.</aff><aff id="A2"><label>2</label>National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20817 USA.</aff><aff id="A3"><label>3</label>Departments of Molecular and Medical Genetics and Pediatrics, Oregon Health & Science University, Portland, OR 97239 USA.</aff><aff id="A4"><label>4</label>Department of Medical Genetics, MassGeneral Hospital for Children, Boston, MA 02114 USA.</aff><aff id="A5"><label>5</label>Department of Pediatrics “F. Fede”, Seconda Università degli Studi di Napoli, Via Luigi De Crecchio 2, 80138, Naples, Italy.</aff><aff id="A6"><label>6</label>Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN 55905 USA.</aff><aff id="A7"><label>7</label>Department of Cardiology and Cardiac Surgery, University Hospital “Scuola Medica Salernitana”, Via Pr. Amedeo, 36-83023 Lauro (AV), Salerno, Italy.</aff><aff id="A8"><label>8</label>Division of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, TX USA.</aff><aff id="A9"><label>9</label>Department of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.</aff><author-notes><corresp id="CR1">Corresponding Author: Siddharth Prakash, MD, PhD, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, 6431 Fannin Street, MSB 6.106, Houston, TX 77030 USA. Phone: 713-500-7003; Fax: 713-500-0693; <email>Siddharth.K.Prakash@uth.tmc.edu</email>.</corresp></author-notes><pub-date pub-type="nihms-submitted"><day>18</day><month>8</month><year>2016</year></pub-date><pub-date pub-type="epub"><day>8</day><month>9</month><year>2016</year></pub-date><pub-date pub-type="ppub"><month>12</month><year>2016</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>12</month><year>2016</year></pub-date><volume>170</volume><issue>12</issue><fpage>3157</fpage><lpage>3164</lpage><pmc-comment>elocation-id from pubmed: 10.1002/ajmg.a.37953</pmc-comment>
<abstract><p id="P1">Turner Syndrome (TS) is a developmental disorder caused by partial or complete loss of one sex chromosome. Bicuspid aortic valve and other left-sided congenital heart lesions (LSL), including thoracic aortic aneurysms and acute aortic dissections, are 30-50 times more frequent in TS than in the general population. In 454 TS subjects, we found that LSL are significantly associated with reduced dosage of Xp genes and increased dosage of Xq genes. We also showed that genome-wide copy number variation is increased in TS and identify a common copy number variant (CNV) in chromosome 12p13.31 that is associated with LSL with an odds ratio of 3.7. This CNV contains three protein-coding genes (<italic>SLC2A3</italic>, <italic>SLC2A14</italic> and <italic>NANOGP1</italic>) and was previously implicated in congenital heart defects in the 22q11 deletion syndrome. In addition, we identified a subset of rare and recurrent CNVs that are also enriched in non-syndromic BAV cases. These observations support our hypothesis that X chromosome and autosomal variants affecting cardiac developmental genes may interact to cause the increased prevalence of LSL in TS.</p></abstract><kwd-group><kwd>Genomics</kwd><kwd>Turner Syndrome</kwd><kwd>Valvular Heart Disease</kwd><kwd>Congenital Heart Defects</kwd><kwd>X chromosome</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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