{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T23:58:47Z","timestamp":1777420727043,"version":"3.51.4"},"reference-count":28,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2016,9,2]],"date-time":"2016-09-02T00:00:00Z","timestamp":1472774400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R25 HG00667\u20100451"],"award-info":[{"award-number":["R25 HG00667\u20100451"]}],"id":[{"id":"10.13039\/100000002","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":[[2016,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Congenital heart defects (CHD) are present in over 1% of all newborns and are the leading cause of birth\u2010defect\u2010related deaths in the United States. We describe two male subjects with CHD, one with an atrial septal defect, a ventricular septal defect, and pulmonary artery stenosis; and the other with tetralogy of Fallot and a right aortic arch, who carry partially overlapping, de novo deletions of chromosome 5q33. The maximum region of overlap between these deletions encompasses <jats:italic>HAND1<\/jats:italic> and <jats:italic>SAP30L<\/jats:italic>, two genes that have previously been shown to play a role in cardiac development. <jats:italic>HAND1<\/jats:italic> encodes a basic helix\u2010loop\u2010helix transcription factor. Cardiac\u2010specific ablation of <jats:italic>Hand1<\/jats:italic> in mice causes septal, valvular, and outflow tract defects. SAP30L, its paralog SAP30, and other SAP proteins form part of a multi\u2010subunit complex involved in transcriptional regulation via histone deacetylation. Morpholino knockdown of <jats:italic>sap30L<\/jats:italic> in zebrafish, which do not have a distinct <jats:italic>sap30<\/jats:italic> gene, leads to cardiac hypoplasia and cardiac insufficiency. We subsequently identified two other individuals with chromosomal deletions involving <jats:italic>HAND1<\/jats:italic> and <jats:italic>SAP30L<\/jats:italic> in whom cardiac\u2010related medical problems were not described. These observations suggest that haploinsufficiency of <jats:italic>HAND1<\/jats:italic> and\/or <jats:italic>SAP30L<\/jats:italic> may contribute to the development of CHD, although the contribution of other genes on chromosome 5q33 cannot be excluded. Our findings also suggest that the penetrance of CHD associated with 5q33 deletions is incomplete and may be influenced by other genetic, environmental or stochastic factors. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37957","type":"journal-article","created":{"date-parts":[[2016,9,2]],"date-time":"2016-09-02T13:33:46Z","timestamp":1472823226000},"page":"3338-3342","source":"Crossref","is-referenced-by-count":6,"title":["Chromosome 5q33 deletions associated with congenital heart defects"],"prefix":"10.1002","volume":"170","author":[{"given":"Molly","family":"Starkovich","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seema R.","family":"Lalani","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine L.","family":"Mercer","sequence":"additional","affiliation":[{"name":"Wessex Clinical Genetics Service University Hospital Southampton NHS Foundation Trust, Princess Anne Hospital Southampton United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daryl A.","family":"Scott","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"},{"name":"Department of Molecular Physiology and Biophysics Baylor College of Medicine Houston 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