Investigation of TBX5, GATA4, BMP4, CRELD1, NKX2-5 genes and 22q11.2 deletion using multiplex ligation-dependent probe amplification test in patients with congenital heart disease.

Congenital heart defects (CHD) are a group of heart structural disorders and blood vessels that are present at birth. CHD is one of the leading cause of childhood mortality that occurring in 1% of newborns, worldwide. Recent studies have demonstrated the role of copy number variations (CNVs) in CHD etiology. Regarding to the incomplete knowledge about the CHD pathogenicity in Iranian CHD patients, therefore, in this study we have surveyed the frequency of CNVs in CHD-related regions in 40 patients with nonsyndromic CHD. Methods: Sampling was performed of 40 CHD children who referred to the Rajaei Cardiovascular, Medical and Research Center between the period 2015-2016 and their diseases were diagnosed by heart specialists. The Syndromic CHDs were excluded from our study. Multiplex ligation-dependent probe amplification (MLPA) SALSA MLPA P311-B1® kit was used for CNVs evaluation in GATA4, BMP4, TBX5, CRELD1, NKX2-5 genes and detection of 22q11.2 deletion syndrome. Result and Discussion: We failed to found any deletion/duplication CNVs in CHD index members from 40 families. . These results may have some explanations; small studied sample size so the absence of CNVs should be confirmed in larger numbers of patients, unknown CNVs which can’t be detected by MLPA kit with known regions probes, and maybe genes other than GATA4, BMP4, TBX5, CRELD1, NKX2-5 genes involved in our CHD patients etiology.

کلیدواژه ها:

Congenital heart defect ، Multiplex ligation-dependent probe amplification ، Copy number variation