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Analysis of molecular genetic causes of congenital heart defects in children
R. R. Aliyev,
I. Sh. Rasulov,
P. A. Tarasova, 
L. M. Shipilova,
O. I. Gumeniuk,
Yu. V. Chernenkov,
O. S. Groznova
L. M. Shipilova,
O. I. Gumeniuk,
Yu. V. Chernenkov,
O. S. Groznova https://doi.org/10.21508/1027-4065-2023-68-6-36-40
Abstract
In 10–20% of cases, congenital heart defects are caused by chromosomal abnormalities and gene mutation. Purpose. The purpose of the study: analysis of the genetic causes of congenital heart defects in children.
Materials and Methods. The analysis of the medical history and the results of Genetics and Molecular Research (GMR) in 15 children with congenital heart defects were carried out.
Results. Genome-wide DNA sequencing in patients with congenital heart defects revealed deletion 21q22.3 with duplication 4q31.1 ->qter and pathogenic variants in the genes PPP1CB, FN1, PHF6, CITIED2, ARID2, KMT2A, CIT, JAG1, MED13L, ELN, CHRNA3, KCNK9. Conclusion. In the vast majority of cases in the examined children, congenital heart defects were caused by pathogenic gene variants or chromosomal abnormalities. Congenital heart defects are an absolute indication for cytogenetic and molecular genetic examination.
About the Authors
R. R. Aliyev
Razumovsky Saratov State Medical University
Russian Federation
Russian Federation
Saratov
I. Sh. Rasulov
Razumovsky Saratov State Medical University
Russian Federation
Russian Federation
Saratov
P. A. Tarasova
Razumovsky Saratov State Medical University
Russian Federation
Russian Federation
Saratov
L. M. Shipilova
Razumovsky Saratov State Medical University
Russian Federation
Russian Federation
Saratov
O. I. Gumeniuk
Razumovsky Saratov State Medical University
Russian Federation
Russian Federation
SaratovSaratov
Yu. V. Chernenkov
Razumovsky Saratov State Medical University
Russian Federation
Russian Federation
Saratov
O. S. Groznova
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University; Charity Fund Life Genome
Russian Federation
Russian Federation
Moscow
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Review
For citations:
Aliyev R.R., Rasulov I.Sh., Tarasova P.A., Shipilova L.M., Gumeniuk O.I., Chernenkov Yu.V., Groznova O.S. Analysis of molecular genetic causes of congenital heart defects in children. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2023;68(6):36-40. (In Russ.) https://doi.org/10.21508/1027-4065-2023-68-6-36-40
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