AI Article Synopsis
- Tetralogy of Fallot is a common congenital heart condition, but its genetic causes are not well understood, prompting this study to investigate genetic variants using whole exome sequencing.
- The researchers analyzed DNA from eight small families to find specific genetic differences, discovering sixteen single nucleotide polymorphisms (SNPs) and eight small insertions/deletions (InDels) linked to the condition.
- Their findings highlighted several novel genetic mutations that could be responsible for isolated Tetralogy of Fallot, enhancing the understanding of its pathology.
Article Abstract
Background: Tetralogy of Fallot is the most common cyanotic congenital heart disease. However, its pathogenesis remains to be clarified. The purpose of this study was to identify the genetic variants in Tetralogy of Fallot by whole exome sequencing.
Methods: Whole exome sequencing was performed among eight small families with Tetralogy of Fallot. Differential single nucleotide polymorphisms and small InDels were found by alignment within families and between families and then were verified by Sanger sequencing. Tetralogy of Fallot-related genes were determined by analysis using Gene Ontology /pathway, Online Mendelian Inheritance in Man, PubMed and other databases.
Results: A total of sixteen differential single nucleotide polymorphisms loci and eight differential small InDels were discovered. The sixteen differential single nucleotide polymorphisms loci were located on Chr 1, 2, 4, 5, 11, 12, 15, 22 and X. Among the sixteen single nucleotide polymorphisms loci, six has not been reported. The eight differential small InDels were located on Chr 2, 4, 9, 12, 17, 19 and X, whereas of the eight differential small InDels, two has not been reported. Analysis using Gene Ontology /pathway, Online Mendelian Inheritance in Man, PubMed and other databases revealed that , , , , and were associated with Tetralogy of Fallot.
Conclusions: Our findings identify , , , , and mutations as underlying genetic causes of isolated tetralogy of Fallot.
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Source |
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5739789 | PMC |
| http://dx.doi.org/10.18632/oncotarget.22202 | DOI Listing |
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