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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 13, No. 1, 2007, pp. 30-32
Bioline Code: hg07006
Full paper language: English
Document type: Research Article
Document available free of charge

Indian Journal of Human Genetics, Vol. 13, No. 1, 2007, pp. 30-32

 en Short Communication - Missense mutation G296S in GATA4 is not responsible for cardiac septal defects
Ramegowda, Smitha; Kumar, Arun; Savitha, Mysore R; Krishnamurthy, Balasundaram; Doddaiah, Narayanappa & Ramachandra, Nallur B


Background : The most common type of congenital heart disease is the cardiac septal defects, which has reported to be caused by a missense mutation (G296S) in exon 3 of the GATA4 gene.
Aims: The present study was undertaken to find out whether GATA4 gene is the prime cause of the septal defects in Mysore population.
Materials and Methods :GATA4 gene analyses were undertaken on 21 confirmed CHD cases by PCR and DNA sequencing.
Results and Conclusion :Analysis of this particular mutation in 21 septal defect patients revealed that none of the patients had the mutation, indicating that this mutation is population specific or septal defect in Mysore population is caused due to mutations in other regions of the GATA4 gene.

Cardiac septal defects, congenital heart disease, GATA4, missense mutation

© Copyright 2007 Indian Journal of Human Genetics.
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