Very few patients or physicians will ever face Adams-Oliver Syndrome (AOS). Less than 150 families worldwide are afflicted with this rare condition that causes birth defects of the heart, limbs, and blood vessels. But the discovery of a genetic clue to the cause of AOS has implications far beyond the disease itself, because those birth defects are common in the general population. Nine out of every 1,000 babies have heart defects, for example. So, new research into AOS by scientists at King's College London could also shed light on the genetic causes of some birth defects found in the wider population.
The findings, published in The American Journal of Human Genetics, could lead to better ways of detecting and treating birth defects, the scientists say.
What they found were mutations in the ARHGAP31 gene. That alphabet soup of a gene regulates two proteins involved in cell division, growth, and movement. If the gene mutates, the proteins are not regulated properly and normal limb formation could be hindered.
"Through this study we have uncovered the first inherited factor associated with Adams-Oliver Syndrome, which gives us greater understanding of how associated birth defects develop," Professor Richard Trembath, of King's College London, said in a statement. Understanding the genetic causes of rare diseases in this way not only helps us to understand the condition better, but it gives us a unique insight into the role of specific genes in human development on a broader scale."
- read the release from King's College London
- and the abstract in The American Journal of Human Genetics