@Article{chd.12571,
AUTHOR = {Fariborz Soheili, Zahra Jalili, Mahtab Rahbar, Zahed Khatooni, Amir Mashayekhi, Hossein Jafari},
TITLE = {Novel mutation of GATA4 gene in Kurdish population of Iran with nonsyndromic congenital heart septals defects},
JOURNAL = {Structural and Congenital Heart Disease},
VOLUME = {13},
YEAR = {2018},
NUMBER = {2},
PAGES = {295--304},
URL = {http://www.techscience.com/schd/v13n2/38977},
ISSN = {3071-1738},
ABSTRACT = {Background: The mutations in GATA4 gene induce inherited atrial and ventricular septation
defects, which is the most frequent forms of congenital heart defects (CHDs) constituting about
half of all cases.
Method: We have performed High resolution melting (HRM) mutation scanning of GATA4 coding
exons of nonsyndrome 100 patients as a case group including 39 atrial septal defects (ASD), 57
ventricular septal defects (VSD) and four patients with both above defects and 50 healthy individuals as a control group. Our samples are categorized according to their HRM graph. The genome
sequencing has been done for 15 control samples and 25 samples of patients whose HRM analysis
were similar to healthy subjects for each exon. The PolyPhen-2 and MUpro have been used to
determine the causative possibility and structural stability prediction of GATA4 sequence variation.
Results: The HRM curve analysis exhibit that 21 patients and 3 normal samples have deviated
curves for GATA4 coding exons. Sequencing analysis has revealed 12 nonsynonymous mutations
while all of them resulted in stability structure of protein 10 of them are pathogenic and 2 of them
are benign. Also we found two nucleotide deletions which one of them was novel and one new
indel mutation resulting in frame shift mutation, and 4 synonymous variations or polymorphism in
6 of patients and 3 of normal individuals. Six or about 50% of these nonsynonymous mutations
have not been previously reported.
Conclusion: Our results show that there is a spectrum of GATA4 mutations resulting in septal
defects.},
DOI = {10.1111/chd.12571}
}