Absence of GATA4 Mutations in Moroccan Patients with Atrial Septal Defect (ASD) Provides Further Evidence of Limited Involvement of GATA4 in Major Congenital Heart Defects
| Autor: | Khadija Belhassan, Samir Atmani, Imane Samri, Fatima Zohra Moufid, Mohammed Iraqui Houssaini, Ihssane El Bouchikhi, Laila Bouguenouch, Amal Chaouti, Karim Ouldim |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Genetics lcsh:R5-920 Mutation rate education.field_of_study medicine.diagnostic_test Heart disease business.industry GATA4 Population General Medicine 030204 cardiovascular system & hematology medicine.disease Phenotype 03 medical and health sciences 030104 developmental biology 0302 clinical medicine RNA splicing medicine Original Article lcsh:Medicine (General) business education Genetic testing Tetralogy of Fallot |
| Zdroj: | Eurasian J Med Eurasian Journal of Medicine, Vol 52, Iss 3, Pp 283-287 (2020) |
| Popis: | Objective Atrial septal defect (ASD) is one of the most common types of congenital heart disease (CHD). It is mainly caused by mutations of NK2 homeobox 5, GATA binding protein 4 (GATA4), and myosin heavy chain 6 in non-syndromic cases. This study aims to carry out, for the first time, the GATA4 mutation screening in a Moroccan population affected by ASD and compare the obtained mutation rate across populations. Materials and methods A total of 33 patients were enrolled in this study. DNAs were extracted from peripheral blood samples, and we performed PCR-sequencing for GATA4 coding regions. Sequences were analyzed by sequence alignment and functional impact prediction tools. Mutation rate comparisons were performed by R software using the appropriate statistical tests. Results We detected 7 variants, but no pathogenic mutation was revealed, except for Asn352= that was assessed by human splicing finder algorithms to have a potential impairing effect on the splicing mechanism. Until proven by in vitro functional studies, the current pathogenic mutation rate in our cohort seems to be 0%. Statistical comparison with previous studies from all over the world shows no significant difference. Seemingly, comparison of previous GATA4 mutation rates among tetralogy of Fallot (TOF) populations shows no significant difference. Conclusion The low rates of GATA4 mutations observed throughout ASD and TOF international populations may suggest a limited causality of GATA4 mutations in the main CHDs, which further confirms the co-involvement of additional genetic and/or environmental factors in the manifestation of these phenotypes. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|