Medknow Publications on behalf of Indian Society of Human Genetics
Abstract
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