Genetic clue to common birth defects found

Scientists at King's College London have for the first time uncovered a gene responsible for Adams-Oliver Syndrome (AOS), a condition which can cause birth defects of the heart, limbs or blood vessels. The study, published in the American Journal of Human Genetics today, gives valuable insight not only into this particular condition, but also the possible genetic causes of these common birth defects found in the wider population. The team of researchers, led by the National Institute for Health Research (NIHR) comprehensive Biomedical Research Centre (BRC) at King's College London and Guy's and St Thomas', say that these findings could lead to better ways of treating children with these defects and may, in the future, help to find ways to recognise and ultimately prevent them from occurring. AOS is a rare developmental condition that affects less than 150 families worldwide. But birth defects of the heart, limbs and blood vessels, seen in babies with the condition, are in fact relatively common in the general population - for example, nine in every 1,000 babies are born with a heart defect. The team of researchers set out to investigate the genetic cause of AOS in order to detect clues to the role genes might play in congenital birth defects. Using modern DNA technology to examine the patterns and variation of genes within two affected AOS families, the team detected mutations in the ARHGAP31 gene.