Mutational Assessment in NKX2-5 and ACTC1 Genes in Patients with Congenital Cardiac Septal Defect (CCSD) from Ethnic Kashmiri Population

Nadeem Ul Nazeer, Mohammad Akbar Bhat (), Bilal Rah, Gh Rasool Bhat, Shadil Ibrahim Wani, Adfar Yousuf, Abdul Majeed Dar and Dil Afroze ()
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Nadeem Ul Nazeer: Department of CVTS, Sheri-Kashmir Institute of Medical Sciences, Srinagar 190011, India
Mohammad Akbar Bhat: Department of CVTS, Sheri-Kashmir Institute of Medical Sciences, Srinagar 190011, India
Bilal Rah: Advanced Centre for Human Genetics, Sheri-Kashmir Institute of Medical Sciences, Srinagar 190011, India
Gh Rasool Bhat: Advanced Centre for Human Genetics, Sheri-Kashmir Institute of Medical Sciences, Srinagar 190011, India
Shadil Ibrahim Wani: Advanced Centre for Human Genetics, Sheri-Kashmir Institute of Medical Sciences, Srinagar 190011, India
Adfar Yousuf: Advanced Centre for Human Genetics, Sheri-Kashmir Institute of Medical Sciences, Srinagar 190011, India
Abdul Majeed Dar: Department of CVTS, Sheri-Kashmir Institute of Medical Sciences, Srinagar 190011, India
Dil Afroze: Advanced Centre for Human Genetics, Sheri-Kashmir Institute of Medical Sciences, Srinagar 190011, India

IJERPH, 2022, vol. 19, issue 16, 1-12

Abstract: (1) Background globe. The etiology of CHDs is complex and involves both genetic and non-genetic factors. Although, significant progress has been made in deciphering the genetic components involved in CHDs, recent reports have revealed that mutations in Nk2 homeobox5 ( NKX2-5 ) and actin alpha cardiac muscle1 ( ACTC1 ) genes play a key role in CHDs such as atrial and ventricular septum defects. Therefore, the present study evaluates the role of key hotspot mutations in NKX2-5 and ACTC1 genes of congenital cardiac septal defect (CCSD) in ethnic Kashmiri population. (2) Methods: A total of 112 confirmed CHD patients were included in the current study, of which 30 patients were evaluated for mutational analysis for hotspot mutations of NKX2-5 and ACTC1 genes. The total genomic DNA was extracted from the samples (cardiac tissue/blood) and were subjected to amplification for NKX2-5 (exon 1 and 2), and ACTC1 (exon 2) genes by using PCR specific primers to analyze the hotspot mutations in respective exons. The amplified products obtained were sent to Macrogen Korea for sequencing by Sanger’s method. (3) Results: Our results confirmed that not a single mutation was found in either hotspot exon 1 and 2 of NKX2-5 and exon 2 of ACTC1 in the patients included in the current study. Interestingly, a novel synonymous nucleotide variation leading to G > C transversion (GCG > GCC) was found in exon 2 of NKX2-5 gene of CCSD patient. (4) Conclusions: The current findings demonstrated the role of NKX2-5 and ACTC1 in cardiac development. The study will provide an insight in understanding the genetic etiology and highlights the role of newly identified mutations in patients with CDS’s in ethnic Kashmiri population. In silico findings revealed amino acid changes, splice site variation and the creation of new site. Furthermore, the study warrants complete screening of genes involved in CCSDs.

Keywords: congenital heart defects; hotspot mutations; birth defects; ventricular septal defect; atrial septal defect; defects and coarctation of aorta (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2022
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