{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T19:53:11Z","timestamp":1789847591004,"version":"4.0.1"},"reference-count":17,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2014,9,24]],"date-time":"2014-09-24T00:00:00Z","timestamp":1411516800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003142","name":"Fonds NutsOhra","doi-asserted-by":"publisher","award":["0901-80"],"award-info":[{"award-number":["0901-80"]}],"id":[{"id":"10.13039\/501100003142","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Since 2004, <jats:italic>CHD7<\/jats:italic> mutations have been a known cause of CHARGE (Coloboma, Heart defects, Atresia of choane, Retardation of growth and development, Genital hypoplasia, Ear anomalies) syndrome, but the full clinical spectrum of <jats:italic>CHD7<\/jats:italic> mutations is only now gradually emerging. <jats:italic>CHD7<\/jats:italic> mutations have been identified in patients who do not fulfill the clinical criteria for CHARGE syndrome and in patients with overlapping syndromes. Variable congenital heart defects occur in the majority of patients with <jats:italic>CHD7<\/jats:italic> mutations, with an overrepresentation of atrioventricular septal defects and conotruncal heart defects. This prompted us to study <jats:italic>CHD7<\/jats:italic> in 46 patients with these heart defects and one other feature of CHARGE syndrome. We identified two <jats:italic>CHD7<\/jats:italic> variants that were inherited from a healthy parent (c.3778\u2009+\u200917C\u2009&gt;\u2009T, c.7294G\u2009&gt;\u2009A), but no pathogenic <jats:italic>CHD7<\/jats:italic> mutations. We conclude that <jats:italic>CHD7<\/jats:italic> mutations are not a major cause of the atrioventricular septal defects and conotruncal heart defects, not even if one extra phenotypic feature of CHARGE syndrome is present. Therefore, <jats:italic>CHD7<\/jats:italic> analysis should not be performed routinely in this group of patients. However, we do recommend adding <jats:italic>CHD7<\/jats:italic> to massive parallel sequencing gene panels for diagnostic work in patients with syndromic heart defects. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36747","type":"journal-article","created":{"date-parts":[[2014,9,24]],"date-time":"2014-09-24T18:36:37Z","timestamp":1411583797000},"page":"3003-3009","source":"Crossref","is-referenced-by-count":11,"title":["<i>CHD<\/i>7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects"],"prefix":"10.1002","volume":"164","author":[{"given":"Nicole","family":"Corsten\u2010Janssen","sequence":"first","affiliation":[{"name":"University of Groningen, University Medical Center Groningen, Department of Genetics Groningen Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gideon J.","family":"du Marchie Sarvaas","sequence":"additional","affiliation":[{"name":"University of Groningen, University Medical Center Groningen, Center for Congenital Heart Diseases Groningen Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilhelmina S.","family":"Kerstjens\u2010Frederikse","sequence":"additional","affiliation":[{"name":"University of Groningen, University Medical Center Groningen, Department of Genetics Groningen Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lies H.","family":"Hoefsloot","sequence":"additional","affiliation":[{"name":"Department of Genetics Radboud University Nijmegen Medical Center Nijmegen Netherlands"},{"name":"Department of Genetics Erasmus Medical Center Rotterdam Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid M.","family":"van Beynum","sequence":"additional","affiliation":[{"name":"Children's Heart Center Radboud University Nijmegen Medical Center Nijmegen Netherlands"},{"name":"Department of Pediatric Cardiology Erasmus Medical Center Rotterdam Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Livia","family":"Kapusta","sequence":"additional","affiliation":[{"name":"Children's Heart Center Radboud University Nijmegen Medical Center Nijmegen Netherlands"},{"name":"Pediatric Cardiology Dana\u2010Dwek Children's Hospital Sourasky Medical Center Tel Aviv University Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Conny M.A.","family":"van Ravenswaaij\u2010Arts","sequence":"additional","affiliation":[{"name":"University of Groningen, University Medical Center Groningen, Department of Genetics Groningen Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,9,24]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.03.003"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.087106"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-2652"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22106"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992289803700302"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.45"},{"key":"e_1_2_6_8_1","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1159\/000351127","article-title":"More clinical overlap between 22q11.2 deletion syndrome and CHARGE syndrome than often anticipated","volume":"4","author":"Corsten\u2010Janssen N","year":"2012","journal-title":"Mol 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