{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T16:45:35Z","timestamp":1764175535635,"version":"build-2065373602"},"reference-count":63,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2024,2,5]],"date-time":"2024-02-05T00:00:00Z","timestamp":1707091200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100018712","name":"\u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy Cluj-Napoca","doi-asserted-by":"publisher","award":["PCD 1032\/8\/2021"],"award-info":[{"award-number":["PCD 1032\/8\/2021"]}],"id":[{"id":"10.13039\/501100018712","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Congenital heart defects (CHDs) have had an increasing prevalence over the last decades, being one of the most common congenital defects. Their etiopathogenesis is multifactorial in origin. About 10\u201315% of all CHD can be attributed to copy number variations (CNVs), a type of submicroscopic structural genetic alterations. The aim of this study was to evaluate the involvement of CNVs in the development of congenital heart defects. We performed a cohort study investigating the presence of CNVs in the 22q11.2 region and GATA4, TBX5, NKX2-5, BMP4, and CRELD1 genes in patients with syndromic and isolated CHDs. A total of 56 patients were included in the study, half of them (28 subjects) being classified as syndromic. The most common heart defect in our study population was ventricular septal defect (VSD) at 39.28%. There were no statistically significant differences between the two groups in terms of CHD-type distribution, demographical, and clinical features, with the exceptions of birth length, weight, and length at the time of blood sampling, that were significantly lower in the syndromic group. Through multiplex ligation-dependent probe amplification (MLPA) analysis, we found two heterozygous deletions in the 22q11.2 region, both in patients from the syndromic group. No CNVs involving GATA4, NKX2-5, TBX5, BMP4, and CRELD1 genes were identified in our study. We conclude that the MLPA assay may be used as a first genetic test in patients with syndromic CHD and that the 22q11.2 region may be included in the panels used for screening these patients.<\/jats:p>","DOI":"10.3390\/genes15020207","type":"journal-article","created":{"date-parts":[[2024,2,5]],"date-time":"2024-02-05T05:22:44Z","timestamp":1707110564000},"page":"207","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A Pilot Study of Multiplex Ligation-Dependent Probe Amplification Evaluation of Copy Number Variations in Romanian Children with Congenital Heart Defects"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2064-9969","authenticated-orcid":false,"given":"Alexandru Cristian","family":"Bolundu\u021b","sequence":"first","affiliation":[{"name":"1st Department of Pediatrics, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 400370 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8864-9191","authenticated-orcid":false,"given":"Florina","family":"Nazarie","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7649-5308","authenticated-orcid":false,"given":"Cecilia","family":"Lazea","sequence":"additional","affiliation":[{"name":"1st Department of Pediatrics, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 400370 Cluj-Napoca, Romania"},{"name":"1st Pediatrics Clinic, Emergency Pediatric Clinical Hospital, 400370 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Crina","family":"\u0218ufan\u0103","sequence":"additional","affiliation":[{"name":"1st Pediatrics Clinic, Emergency Pediatric Clinical Hospital, 400370 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Miclea","sequence":"additional","affiliation":[{"name":"1st Department of Pediatrics, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 400370 Cluj-Napoca, Romania"},{"name":"Medical Genetics Compartment, Emergency Pediatric Clinical Hospital, 400370 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u0103lin","family":"Laz\u0103r","sequence":"additional","affiliation":[{"name":"1st Department of Pediatrics, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 400370 Cluj-Napoca, Romania"},{"name":"1st Pediatrics Clinic, Emergency Pediatric Clinical Hospital, 400370 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen Mihaela","family":"Mihu","sequence":"additional","affiliation":[{"name":"Department of Histology, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,2,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1093\/ije\/dyz009","article-title":"Global Birth Prevalence of Congenital Heart Defects 1970\u20132017: Updated Systematic Review and Meta-Analysis of 260 Studies","volume":"48","author":"Liu","year":"2019","journal-title":"Int. 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