In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease.
Introduction: Congenital heart disease (CHD) is the most common congenital abnormality and the main cause of infant mortality worldwide. Some of the mutations that occur in the GATA4 gene region may result in different types of CHD. Here, we report our in silico analysis of gene variants to determin...
| Publicado en: | Journal of Cardiovascular & Thoracic Research Vol. 13; no. 4; pp. 336 - 355 |
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| Autores principales: | , , , , , |
| Formato: | pictorial research tables/charts Journal Article |
| Publicado: |
Tabriz University of Medical Sciences
2021
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=155021367&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 155021367 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 20085117 BL7R jtl: Journal of Cardiovascular & Thoracic Research issn: 20085117 maglogo: N pubinfo: dt: 2021 vid: 13 iid: 4 pid: 69573 pub: Tabriz University of Medical Sciences artinfo: ui: 155021367 155021367 155021367 10.34172/jcvtr.2021.45 155021367 ppf: 336 ppct: 19 formats: fmt: @attributes: type: P tig: atl: In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease. aug: au: Abbasi, Shiva Mohsen-Pour, Neda Naderi, Niloofar Rahimi, Shahin Maleki, Majid Kalayinia, Samira affil: Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran sug: subj: Transcription Factors Heart Defects, Congenital Risk Factors Heart Defects, Congenital Familial and Genetic Human Genomics Phylogenetics Bioinformatics Molecular Structure ab: Introduction: Congenital heart disease (CHD) is the most common congenital abnormality and the main cause of infant mortality worldwide. Some of the mutations that occur in the GATA4 gene region may result in different types of CHD. Here, we report our in silico analysis of gene variants to determine the effects of the GATA4 gene on the development of CHD. Methods: Online 1000 Genomes Project, ExAC, gnomAD, GO-ESP, TOPMed, Iranome, GME, ClinVar, and HGMD databases were drawn upon to collect information on all the reported GATA4 variations. The functional importance of the genetic variants was assessed by using SIFT, MutationTaster, CADD, PolyPhen-2, PROVEAN, and GERP prediction tools. Thereafter, network analysis of the GATA4 protein via STRING, normal/mutant protein structure prediction via HOPE and I-TASSER, and phylogenetic assessment of the GATA4 sequence alignment via ClustalW were performed. Results: The most frequent variant was c.874T > C (45.58%), which was reported in Germany. Ventricular septal defect was the most frequent type of CHD. Out of all the reported variants of GATA4, 38 variants were pathogenic. A high level of pathogenicity was shown for p.Gly221Arg (CADD score = 31), which was further analyzed. Conclusion: The GATA4 gene plays a significant role in CHD; we, therefore, suggest that it be accorded priority in CHD genetic screening. pubtype: Academic Journal doctype: pictorial research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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