| Title: |
Molecular Analysis of Altered Genomic Regions in Patients with Tetralogy Of Fallot (TOF). |
| Authors: |
Dutta, Santanu; Dasgupta, Ahana; Ghosh, Sumanta; Das, Sanchita; Karmakar, Bitan; Chatterjee, Sharmila; P., Nitai; Pandit, Bhaswati |
| Source: |
European Journal of Cardiovascular Medicine; Jun2025, Vol. 15 Issue 6, p739-748, 10p |
| Subject Terms: |
Congenital heart disease; Tetralogy of Fallot; Chromosome abnormalities; Gene amplification; Deletion mutation |
| Abstract: |
Background: Congenital heart disease (CHD) is a prevalent global health issue, affecting approximately 9 out of every 1000 newborns, with India witnessing nearly 200,000 children born with CHD each year. In 20-30% of CHD cases the genetic cause is known leaving approximately 60% unknown. TOF (Tetralogy of fallot), characterized by several cardiac anomalies, necessitates early identification and intervention. Despite genetic abnormalities identified in TOF, not all cases can be explained by known genetic changes, indicating the presence of additional contributing factors. Methods: In this study, array CGH was employed to identify and characterize chromosomal aberrations in blood and heart tissue samplesfrom clinically confirmed TOF cases followed by validation with RTPCR. Results: On analysis we found that several chromosomal regions were deleted and amplified across many individuals with TOF. Our study also identified unique deletions on chromosome 4, 5, 6, 7, 13. The validated regions harbour many genes (TBX1, NKX2-5, ZFPM2, and GATA4) already implicated in TOF and other congenital heart disease. Validation was also done in an independent set of subjects not included for array CGH analysis. The unique novel regions harbour many genes (UGT2B17, ZDHHC11, ZDHHC11B, TRGC2, TARP, TCRGV) implicated in development, anticipated to have active role in developing heart. Conclusion: The findings aim to uncover signature molecular regions altered in TOF, with validation through RT-PCR from blood. The study provides valuable insights for future TOF screening and diagnostic panels, contributing to improved patient care and management. [ABSTRACT FROM AUTHOR] |
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| Database: |
Complementary Index |