Gerbode Ventricular Septal Defect –A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case Series
Gerbode defects are rare Ventricular Septal Defects (VSD) constituting approximately one percent cases of congenital heart diseases. The genetic predispositions towards the Gerbode Defect (GD) have remained an unexplored area of study till date. We investigated the genotype-phenotype correlation i...
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JCDR Research and Publications Private Limited
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doaj-155d53b4d65f4d8ca9c0a9c2e7715e3e2020-11-25T03:01:34ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2017-03-01113GR01GR0410.7860/JCDR/2017/23820.9549Gerbode Ventricular Septal Defect –A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case SeriesYashvanthi Borkar0Krishnananda Nayak1Ranjan K. Shetty2Gopalakrishna Bhat3Rajasekhar Moka4PhD Scholar, Department of Cellular and Molecular Biology, School of Life Sciences, Manipal University, Manipal, Karnataka, India.Assistant Professor and Head, Department of Cardiovascular Therapy, School of Allied Health Sciences, Manipal University, Manipal, Karnataka, India.Professor and Head, Department of Cardiology, Kasturba Medical College, Manipal, Karnataka, India.Professor, Department of Biotechnology, School of Life Sciences, Manipal University, Manipal, Karnataka, India.Associate Professor, Department of Cellular and Molecular Biology, School of Life Sciences, Manipal University, Manipal, Karnataka, India.Gerbode defects are rare Ventricular Septal Defects (VSD) constituting approximately one percent cases of congenital heart diseases. The genetic predispositions towards the Gerbode Defect (GD) have remained an unexplored area of study till date. We investigated the genotype-phenotype correlation in patients with Gerbode VSD. Molecular genetic study on Sanger sequencing and subsequent data analysis showed that the contributing sequence variations in the NKX2-5, GATA4 and TBX5 gene lies in one of the highly conserved regions and this region is responsible for encoding a functional protein. The resulting genotype variation may be responsible for causing the diseased phenotype known as GD.https://jcdr.net/articles/PDF/9549/23820_CE[Ra1]_F(RK)_PF1(P_SH)_PFA(DK)_PF2(P_RB).pdfechocardiographysingle nucleotide polymorphismtranscriptional gene(s). |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Yashvanthi Borkar Krishnananda Nayak Ranjan K. Shetty Gopalakrishna Bhat Rajasekhar Moka |
| spellingShingle |
Yashvanthi Borkar Krishnananda Nayak Ranjan K. Shetty Gopalakrishna Bhat Rajasekhar Moka Gerbode Ventricular Septal Defect –A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case Series Journal of Clinical and Diagnostic Research echocardiography single nucleotide polymorphism transcriptional gene(s). |
| author_facet |
Yashvanthi Borkar Krishnananda Nayak Ranjan K. Shetty Gopalakrishna Bhat Rajasekhar Moka |
| author_sort |
Yashvanthi Borkar |
| title |
Gerbode Ventricular Septal Defect –A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case Series |
| title_short |
Gerbode Ventricular Septal Defect –A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case Series |
| title_full |
Gerbode Ventricular Septal Defect –A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case Series |
| title_fullStr |
Gerbode Ventricular Septal Defect –A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case Series |
| title_full_unstemmed |
Gerbode Ventricular Septal Defect –A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case Series |
| title_sort |
gerbode ventricular septal defect –a rare cardiac anomaly associated with genetic variants in indian population- a case series |
| publisher |
JCDR Research and Publications Private Limited |
| series |
Journal of Clinical and Diagnostic Research |
| issn |
2249-782X 0973-709X |
| publishDate |
2017-03-01 |
| description |
Gerbode defects are rare Ventricular Septal Defects (VSD) constituting approximately one percent cases of congenital heart diseases.
The genetic predispositions towards the Gerbode Defect (GD) have remained an unexplored area of study till date. We investigated the
genotype-phenotype correlation in patients with Gerbode VSD. Molecular genetic study on Sanger sequencing and subsequent data
analysis showed that the contributing sequence variations in the NKX2-5, GATA4 and TBX5 gene lies in one of the highly conserved
regions and this region is responsible for encoding a functional protein. The resulting genotype variation may be responsible for
causing the diseased phenotype known as GD. |
| topic |
echocardiography single nucleotide polymorphism transcriptional gene(s). |
| url |
https://jcdr.net/articles/PDF/9549/23820_CE[Ra1]_F(RK)_PF1(P_SH)_PFA(DK)_PF2(P_RB).pdf |
| work_keys_str_mv |
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