ID | 65745 |
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Author |
Moldovan, Elena
Pediatric Intensive Care Unit, Cardiovascular and Transplant Emergency Institute of Târgu Mureș
Bănescu, Claudia
George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Târgu Mureș
Cucerea, Manuela
George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Târgu Mureș
Moldovan, Valeriu
Târgu Mureș County Emergency Clinical Hospital
Gozar, Liliana
George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Târgu Mureș
Pușcașiu, Lucian
George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Târgu Mureș
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Abstract | Congenital heart disease is the most common malformative pathology in newborns, with a worldwide incidence at 0.4-5%. We investigated the possible relationship between variations in nucleotide sequences and specific cardiac malformations in the GATA-binding factor 4 (GATA4) exon 1 region by using Sanger sequencing. Forty-four newborns from a third-level neonatal intensive care unit who were diagnosed with nonsyndromic, ductal-dependent congenital heart disease (i.e., transposition of the great arteries or ductal-dependent coarctation of the aorta) were enrolled. Their DNA was extracted using commercial methods and tested using the multiplex ligation-dependent probe amplification (MLPA) technique. The Sanger sequencing for GATA4 exon 1 in the newborns’ DNA identified rs61277615, rs73203482, and rs35813172 variants not reported in the ClinVar archive of human variations in newborns previously diagnosed with transposition of the great arteries (n=5) and coarctation of the aorta (n=1). The identification of these novel variants in newborns with transposition of the great arteries or ductal-dependent coarctation of the aorta may be the first step in determining the variants’ contribution to the occurrence of congenital heart disease. However, these results may be inconclusive, since the observed variants within GATA4 gene were not previously reported.
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Keywords | transposition of the great arteries
ductal-dependent coarctation of the aorta
GATA4
MLPA
Sanger sequencing
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Amo Type | Original Article
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Publication Title |
Acta Medica Okayama
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Published Date | 2023-08
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Volume | volume77
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Issue | issue4
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Publisher | Okayama University Medical School
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Start Page | 365
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End Page | 370
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ISSN | 0386-300X
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NCID | AA00508441
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Content Type |
Journal Article
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language |
English
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Copyright Holders | Copyright Ⓒ 2023 by Okayama University Medical School
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File Version | publisher
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Refereed |
True
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Web of Science KeyUT |