Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve.

Objectives: This study was designed to identify disease loci for hypoplastic left heart syndrome (HLHS) and evaluate the genetic relationship between HLHS and bicuspid aortic valve (BAV).

Background: Previously, we identified that HLHS and BAV exhibit complex inheritance, and both HLHS and BAV kindreds are enriched for BAV. However, the genetic basis of HLHS and its relationship to BAV remains unclear.

Parental consanguinity increases congenital heart diseases in South India.

Background: Congenital heart diseases (CHDs) are the commonest single group of congenital abnormalities with a prevalence ranging from 1.0 to 50.89 per 1000 live births in the world population including India, whereas Mysore has a prevalence of 11.

Missense mutation G296S in GATA4 is not responsible for cardiac septal defects.

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.

Evolution of phenylthiocarbamide taster trait in Mysore, South India.

Background: The ability to taste phenylthiocarbamide (PTC), a bitter chemical has long been known to be a heritable trait, which is being widely used for both genetic and anthropological studies. The frequency of taster and non-taster allele is found to vary in different populations.

Aims And Objective: To investigate the frequency of taster trait in Mysore, South India.

De novo isochromosome 18p in a female dysmorphic child.

Isochromosome 18p results in tetrasomy 18p. Most of the i(18p) cases reported so far in the literature are sporadic due to de novo formation, while familial and mosaic cases are infrequent. It is a rare chromosomal abnormality, occurring once in every 140,000 livebirths, affecting males and females equally.