{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T07:28:21Z","timestamp":1787038101873,"version":"build-2736575974"},"reference-count":58,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:00:00Z","timestamp":1787011200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:00:00Z","timestamp":1787011200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader\u2013Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified. Four highly conserved genes in the region (\n                    <jats:italic>NIPA1<\/jats:italic>\n                    ,\n                    <jats:italic>NIPA2<\/jats:italic>\n                    ,\n                    <jats:italic>CYFIP1<\/jats:italic>\n                    , and\n                    <jats:italic>TUBGCP5<\/jats:italic>\n                    ) have been proposed to be involved in cardiac development, yet further exploration is needed to better define cardiac phenotypes of patients with copy number variants (CNVs) in the 15q11.2 BP1\u2013BP2 region. This study examines cardiac defects in 50 patients with microdeletion (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200937) or microduplication (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200913) in 15q11.2 BP1\u2013BP2, utilizing data from the Cytogenomics of Cardiovascular Malformations (CCVM) Consortium registry, composed of patients with both abnormal echocardiogram and chromosomal microarray findings. The microdeletion was found to be enriched in the registry compared to prevalence in a control population (OR\u2009=\u20093.9;\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.0001), with a significant increase of total anomalous pulmonary venous return (TAPVR) in patients who were carriers of the microdeletion (OR\u2009=\u200913.0;\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.0001). Left ventricular outflow tract obstruction (LVOTO) was increased in individuals with the microduplication (OR\u2009=\u20093.9;\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.02). Our results provide evidence for association of CHD with 15q11.2 BP1\u2013BP2 CNVs, with novel associations reported.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70273","type":"journal-article","created":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T07:13:37Z","timestamp":1787037217000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-8019-1204","authenticated-orcid":false,"given":"Morgan B.","family":"Wright","sequence":"first","affiliation":[{"name":"Indiana University School of Medicine  Indianapolis Indiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria 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School of Medicine  Indianapolis Indiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3778-5927","authenticated-orcid":false,"given":"Vidu","family":"Garg","sequence":"additional","affiliation":[{"name":"Center for Cardiovascular Research and the Heart Center, Nationwide Children's Hospital, Department of Pediatrics The Ohio State University  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seema R.","family":"Lalani","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie Burns","family":"Wechsler","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine  Atlanta Georgia USA"},{"name":"Department of Pediatrics Emory University School of Medicine  Atlanta Georgia 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