c.620C>T mutation in GATA4 is associated with congenital heart disease in South India

Saidulu Mattapally, Sheikh Nizamuddin, Kona Samba Murthy, Kumarasamy Thangaraj, Sanjay K. Banerjee

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24 Scopus citations


Background: Congenital heart diseases (CHDs) usually refer to abnormalities in the structure and/or function of the heart that arise before birth. GATA4 plays an important role in embryonic heart development, hence the aim of this study was to find the association of GATA4 mutations with CHD among the south Indian CHD patients. Method: GATA4 gene was sequenced in 100 CHD patients (ASD, VSD, TOF and SV) and 200 controls. Functional significance of the observed GATA4 mutations was analyzed using PolyPhen, SIFT, PMut, Plink, Haploview, ESE finder 3.0 and CONSITE. Results: We observed a total of 19 mutations, of which, one was in 5' UTR, 10 in intronic regions, 3 in coding regions and 5 in 3' UTR. Of the above mutations, one was associated with Atrial Septal Defect (ASD), two were found to be associated with Tetralogy of Fallot (TOF) and three (rs804280, rs4841587 and rs4841588) were strongly associated with Ventricular Septal Defect (VSD). Interestingly, one promoter mutation (-490 to 100 bp) i.e., 620 C>T (rs61277615, p-value = 0.008514), one splice junction mutation (G>A rs73203482; p-value = 9.6e-3, OR = 6.508) and one intronic mutation rs4841587 (p-value = 4.6e-3, OR = 4.758) were the most significant findings of this study. In silico analysis also proves that some of the mutations reported above are pathogenic. Conclusion: The present study found that GATA4 genetic variations are associated with ASD, TOF and VSD in South Indian patients. In silico analysis provides further evidence that some of the observed mutations are pathogenic.

Original languageEnglish (US)
Article number7
JournalBMC medical genetics
Issue number1
StatePublished - Feb 18 2015

Bibliographical note

Funding Information:
The authors are thankful to Department of Biotechnology (DBT) for providing Ramalingaswami Fellowship to SKB, Senior Research Fellowship (SRF) to SM from Indian Council of Medical Research (ICMR). K.T. was supported by a Network project grant (CARDIOMED-BSC0122) from the Council of Scientific and Industrial Research (CSIR), Government of India.

Publisher Copyright:
© 2015 Mattapally et al.


  • ASD
  • Congenital heart disease
  • GATA4
  • Mutation
  • South Indian patients
  • TOF
  • VSD


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