International Journal of Medical Laboratory

en CNV Analysis Using Multiplex Ligation-Dependent Probe Amplification in Iranian Families with Non-Syndromic Congenital Heart Defects: Early Diagnosis of Non-Syndromic Patients عمومى General پژوهشي Research <div style="text-align: justify;">Background and Aims: Congenital heart defects (CHD) are the most common type of congenital disability. <a name="_Hlk14163058">Copy number variations </a>(CNVs) have been found as one of the genetic etiology of non-syndromic CHD, and researchers have detected several pathogenic CNVs in patients with cardiac defects. Materials and Methods: In the present study, 70 patients with familial (20 patients) and sporadic (50 patients) non-syndromic CHD were evaluated to find whether CNVs in the GATA4, NKX2-5, TBX-5, CREL, BMP4 genes, and 22q11.2 region contribute to the pathogenesis of non-syndromic CHD. We have used the <a name="_Hlk14163076">Multiplex Ligation-dependent Probe Amplification</a> (MLPA) technique as a molecular method to identify CNVs in predefined loci. Results: Normal MLPA results were demonstrated for GATA4, NKX2-5, TBX-5, CRELD, and BMP4 genes for all sporadic and familial cases. However, we found three patients with imbalances for the 22q11.2 region. One patient with 22q11.2 deletion showed tetralogy of fallot, and the other had ventricular septal defects/ pulmonary atresia/ multiple aortopulmonary collateral arteries. A duplication of the 22q11.2 region was detected in one patient with patent ductus arteriosus. Conclusion: Identifying genomic imbalances in 6% of the non-syndromic sporadic patients indicates that recurrent CNVs could be associated with non-syndromic CHD. It seems that it is the first CNV analysis using MLPA carried out in Iranian patients with cardiac defects. We suggest that 22q11.2 imbalances should be considered in patients with cardiac lesions to provide an accurate diagnosis and appropriate genetic counseling in affected families. </div> CNV, Familial CHD, MLPA, Non-syndromic CHD, Sporadic CHD 65 72 http://ijml.ssu.ac.ir/browse.php?a_code=A-10-441-1&slc_lang=en&sid=1 Soheila Khaksari سهیلا خاکساری soheilakhaksari@gmail.com 0000-0002-2135-2000 No Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran مرکز تحقیقات ژنتیک، دانشگاه توانبخشی، تهران، ایران Ehsan Aghaei Moghadam احسان اقایی مقدم ehsanaghaei1358@gmail.com No Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran مرکز طبی کودکان، دانشگاه علوم پزشکی تهران، تهران، ایران Ahoura Nozari اهورا نوذری No Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran مرکز تحقیقات ژنتیک، دانشگاه توانبخشی، تهران، ایران Zahra Boroughani زهرا بروغنی zahra.boroughani@yahoo.com 0000-0002-9237-1663 No Department of Microbial Biotechnology, University of Tehran, Tehran, Iran گروه بیوتکنولوژی میکروبی، دانشگاه تهران، تهران، ایران Saghar Ghasemi Firouzabadi ساغر قاسمی فیروزابادی ghasemisaghar@gmail.com 0000-0001-8989-5741 No Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran مرکز تحقیقات ژنتیک، دانشگاه توانبخشی، تهران، ایران Farkhondeh Behjati فرخنده بحجت f_behjati@uswr.ac.ir 0000-0001-6343-0452 Yes Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran مرکز تحقیقات ژنتیک، دانشگاه توانبخشی، تهران، ایران