NKX2-5 Gene Variants Associated with Congenital Heart Defects in Turkish Population
Introduction: Congenital heart defects (CHDs) are the most common congenital anomaly of the newborn with high mortality and morbidity rates. Genetic and environmental risk factors have affect on cardiogenesis. NKX2-5 (NK2 homeobox 5) is a homeobox containing gene which is essential for cardiac diffe...
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| Format: | Article |
| Language: | English |
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Galenos Publishing House
2024-12-01
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| Series: | Güncel Pediatri |
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| Online Access: | https://www.guncelpediatri.com/articles/nkx2-5-gene-variants-associated-with-congenital-heart-defects-in-turkish-population/doi/jcp.2024.69376 |
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| author | Bilgen Bilge Geçkinli Gözde Girgin Özgümüş Şenol Demir Ayberk Türkyilmaz Figen Akalın |
| author_facet | Bilgen Bilge Geçkinli Gözde Girgin Özgümüş Şenol Demir Ayberk Türkyilmaz Figen Akalın |
| author_sort | Bilgen Bilge Geçkinli |
| collection | DOAJ |
| description | Introduction: Congenital heart defects (CHDs) are the most common congenital anomaly of the newborn with high mortality and morbidity rates. Genetic and environmental risk factors have affect on cardiogenesis. NKX2-5 (NK2 homeobox 5) is a homeobox containing gene which is essential for cardiac differentiation. In this study, our aim was to detect NKX2-5 gene variants associated with CHDs in Turkish population and to better understand genotype- phenotype correlations.
Materials and Methods: In this study, we designed primers specific for NKX2-5 gene and sequenced the gene in 80 isolated CHD and 50 control group patients. Patients with chromosomal anomalies, DiGeorge syndrome and multiple congenital anomalies were not included.
Results: Most common CHDs seen in the patients were ventricular septal defects (VSD) and atrial septal defects (ASD) (20%), atrioventricular septal defects (AVSD) and tetralogy of Fallot (TOF) (8.75%). We have detected NKX2-5 gene variants in 3.75% of the patients. We found A119S, R161P and C270Y changes in TOF; PFO (patent foramen ovale) with transient supraventricular, ventricular arrhythmia; and ASD patient, respectively.
Conclusion: This study is designed to contribute to the genetic variations associated with CHD in Turkish population. NKX2-5 gene R161P variant which is on homeobox domain, was previously reported as pathogenic in an individual with thyroid ectopy and PFO. Further studies are needed to evaluate a possible role of these changes. Genetic testing is important in the follow-up and treatment of patients. |
| format | Article |
| id | doaj-art-e63689b708124d9797dd29697980caa9 |
| institution | DOAJ |
| issn | 1304-9054 1308-6308 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Galenos Publishing House |
| record_format | Article |
| series | Güncel Pediatri |
| spelling | doaj-art-e63689b708124d9797dd29697980caa92025-08-20T02:50:23ZengGalenos Publishing HouseGüncel Pediatri1304-90541308-63082024-12-0122315816210.4274/jcp.2024.69376NKX2-5 Gene Variants Associated with Congenital Heart Defects in Turkish PopulationBilgen Bilge Geçkinli0https://orcid.org/0000-0003-0317-5677Gözde Girgin Özgümüş1https://orcid.org/0000-0001-5401-9194Şenol Demir2https://orcid.org/0000-0002-8374-0359Ayberk Türkyilmaz3https://orcid.org/0000-0001-9647-8970Figen Akalın4https://orcid.org/0000-0003-3836-3117Marmara University Faculty of Medicine, Department of Medical Genetics, İstanbul, TurkeyMarmara University Faculty of Medicine, Department of Medical Biology and Genetics, İstanbul, TurkeyMarmara University Pendik Training and Research Hospital, Clinic of Medical Genetics, İstanbul, TurkeyMarmara University Faculty of Medicine, Department of Medical Genetics, İstanbul, TurkeyMarmara University Faculty of Medicine, Department of Pediatric Cardiology, İstanbul, TurkeyIntroduction: Congenital heart defects (CHDs) are the most common congenital anomaly of the newborn with high mortality and morbidity rates. Genetic and environmental risk factors have affect on cardiogenesis. NKX2-5 (NK2 homeobox 5) is a homeobox containing gene which is essential for cardiac differentiation. In this study, our aim was to detect NKX2-5 gene variants associated with CHDs in Turkish population and to better understand genotype- phenotype correlations. Materials and Methods: In this study, we designed primers specific for NKX2-5 gene and sequenced the gene in 80 isolated CHD and 50 control group patients. Patients with chromosomal anomalies, DiGeorge syndrome and multiple congenital anomalies were not included. Results: Most common CHDs seen in the patients were ventricular septal defects (VSD) and atrial septal defects (ASD) (20%), atrioventricular septal defects (AVSD) and tetralogy of Fallot (TOF) (8.75%). We have detected NKX2-5 gene variants in 3.75% of the patients. We found A119S, R161P and C270Y changes in TOF; PFO (patent foramen ovale) with transient supraventricular, ventricular arrhythmia; and ASD patient, respectively. Conclusion: This study is designed to contribute to the genetic variations associated with CHD in Turkish population. NKX2-5 gene R161P variant which is on homeobox domain, was previously reported as pathogenic in an individual with thyroid ectopy and PFO. Further studies are needed to evaluate a possible role of these changes. Genetic testing is important in the follow-up and treatment of patients.https://www.guncelpediatri.com/articles/nkx2-5-gene-variants-associated-with-congenital-heart-defects-in-turkish-population/doi/jcp.2024.69376congenital heart defectsnkx2-5 genetetralogy of fallotpatent foramen ovaleatrial septal defect |
| spellingShingle | Bilgen Bilge Geçkinli Gözde Girgin Özgümüş Şenol Demir Ayberk Türkyilmaz Figen Akalın NKX2-5 Gene Variants Associated with Congenital Heart Defects in Turkish Population Güncel Pediatri congenital heart defects nkx2-5 gene tetralogy of fallot patent foramen ovale atrial septal defect |
| title | NKX2-5 Gene Variants Associated with Congenital Heart Defects in Turkish Population |
| title_full | NKX2-5 Gene Variants Associated with Congenital Heart Defects in Turkish Population |
| title_fullStr | NKX2-5 Gene Variants Associated with Congenital Heart Defects in Turkish Population |
| title_full_unstemmed | NKX2-5 Gene Variants Associated with Congenital Heart Defects in Turkish Population |
| title_short | NKX2-5 Gene Variants Associated with Congenital Heart Defects in Turkish Population |
| title_sort | nkx2 5 gene variants associated with congenital heart defects in turkish population |
| topic | congenital heart defects nkx2-5 gene tetralogy of fallot patent foramen ovale atrial septal defect |
| url | https://www.guncelpediatri.com/articles/nkx2-5-gene-variants-associated-with-congenital-heart-defects-in-turkish-population/doi/jcp.2024.69376 |
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