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Rare nucleotide sequence variants of pyroptosis-related genes in premature infants with bronchopulmonary dysplasia
https://doi.org/10.25557/2073-7998.2025.08.72-73
Abstract
Bronchopulmonary dysplasia (BPD) is a common respiratory disease in preterm infants caused by multifactorial etiology. Rare variants (MAF<0.005) of pyroptosis-related genes (CHMP7, NLRC4, NLRP1, NLRP2, NLRP3, NLRP6, NLRP7, NLRP9, NLRP10, NLRP12) were identified in 36 premature infants with BPD and 32 premature infants without BPD using the whole exome sequencing. Two previously undescribed in ClinVar missense variants of the NLRP7 (chr19-54939647-G-T) and NLRP2 (chr19-54981629-C-A) genes were found in the newborns with BPD. According to Data Interpretation Guidelines, the NLRP7 gene variant is assessed to be of uncertain significance, and the NLRP2 gene variant is likely to be benign.
Supporting agencies: The study was not supported by sponsorship
About the Authors
A. P. Mikhalenka
Institute of Genetics and Cytology of the National Academy of Sciences of Belarus
Belarus
Belarus
220072; 27, Akademicheskaya st.; Minsk
V. M. Malyshava
Institute of Genetics and Cytology of the National Academy of Sciences of Belarus
Belarus
Belarus
220072; 27, Akademicheskaya st.; Minsk
A. P. Sukharava
Belarusian State Medical University; Clinical Maternity Hospital of Minsk Region
Belarus
Belarus
220083; 83, Dzerzhinski Ave.; 220076; 16, Francysk Skaryna st.; Minsk
M. V. Artsiusheuskaya
Belarusian State Medical University; Clinical Maternity Hospital of Minsk Region
Belarus
Belarus
220083; 83, Dzerzhinski Ave.; 220076; 16, Francysk Skaryna st.; Minsk
A. V. Kilcheusky
Institute of Genetics and Cytology of the National Academy of Sciences of Belarus
Belarus
Belarus
220072; 27, Akademicheskaya st.; Minsk
References
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Review
For citations:
Mikhalenka A.P., Malyshava V.M., Sukharava A.P., Artsiusheuskaya M.V., Kilcheusky A.V. Rare nucleotide sequence variants of pyroptosis-related genes in premature infants with bronchopulmonary dysplasia. Medical Genetics. 2025;24(8):72-73. (In Russ.) https://doi.org/10.25557/2073-7998.2025.08.72-73
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