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

Nazeer, Nadeem Ul; Bhat, Mohammad Akbar; Rah, Bilal; Bhat, Gh Rasool; Wani, Shadil Ibrahim; Yousuf, Adfar; Dar, Abdul Majeed; Afroze, Dil

doi:10.3390/ijerph19169884

Open AccessArticle

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

by

Nadeem Ul Nazeer

¹,

Mohammad Akbar Bhat

^1,*,

Bilal Rah

^2,†,

Gh Rasool Bhat

^2,†,

Shadil Ibrahim Wani

²,

Adfar Yousuf

²,

Abdul Majeed Dar

¹ and

Dil Afroze

^2,*

¹

Department of CVTS, Sheri-Kashmir Institute of Medical Sciences, Srinagar 190011, India

²

Advanced Centre for Human Genetics, Sheri-Kashmir Institute of Medical Sciences, Srinagar 190011, India

^*

Authors to whom correspondence should be addressed.

^†

These authors contributed equally to this work.

Int. J. Environ. Res. Public Health 2022, 19(16), 9884; https://doi.org/10.3390/ijerph19169884

Submission received: 13 April 2022 / Revised: 13 June 2022 / Accepted: 14 June 2022 / Published: 11 August 2022

(This article belongs to the Special Issue Understanding Cardiovascular Disease: Causality, Pathogenesis, Prevention, and Treatment)

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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

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MDPI and ACS Style

Nazeer, N.U.; Bhat, M.A.; Rah, B.; Bhat, G.R.; Wani, S.I.; Yousuf, A.; Dar, A.M.; Afroze, D. Mutational Assessment in NKX2-5 and ACTC1 Genes in Patients with Congenital Cardiac Septal Defect (CCSD) from Ethnic Kashmiri Population. Int. J. Environ. Res. Public Health 2022, 19, 9884. https://doi.org/10.3390/ijerph19169884

AMA Style

Nazeer NU, Bhat MA, Rah B, Bhat GR, Wani SI, Yousuf A, Dar AM, Afroze D. Mutational Assessment in NKX2-5 and ACTC1 Genes in Patients with Congenital Cardiac Septal Defect (CCSD) from Ethnic Kashmiri Population. International Journal of Environmental Research and Public Health. 2022; 19(16):9884. https://doi.org/10.3390/ijerph19169884

Chicago/Turabian Style

Nazeer, Nadeem Ul, Mohammad Akbar Bhat, Bilal Rah, Gh Rasool Bhat, Shadil Ibrahim Wani, Adfar Yousuf, Abdul Majeed Dar, and Dil Afroze. 2022. "Mutational Assessment in NKX2-5 and ACTC1 Genes in Patients with Congenital Cardiac Septal Defect (CCSD) from Ethnic Kashmiri Population" International Journal of Environmental Research and Public Health 19, no. 16: 9884. https://doi.org/10.3390/ijerph19169884

APA Style

Nazeer, N. U., Bhat, M. A., Rah, B., Bhat, G. R., Wani, S. I., Yousuf, A., Dar, A. M., & Afroze, D. (2022). Mutational Assessment in NKX2-5 and ACTC1 Genes in Patients with Congenital Cardiac Septal Defect (CCSD) from Ethnic Kashmiri Population. International Journal of Environmental Research and Public Health, 19(16), 9884. https://doi.org/10.3390/ijerph19169884

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

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