Two genes tied to common birth defect
In 1963, physician Angelo M. DiGeorge discovered a set of birth defects that often affects the heart and is behind a host of other problems. These can include mild learning disabilities, severe retardation, and facial abnormalities such as down-slanting eyes, a bulbous nose, and cleft palate. Clinicians estimate that DiGeorge’s syndrome affects 1 in 4,000 newborns and is the second most common cause of congenital heart defects.
Now, researchers report that defects in either of two specific genes may be behind the syndrome. In an article in the March 1 Nature and two in the March Nature Genetics, three research teams working with mice describe disabling either of two genes, Tbx1 and Crkol, to reproduce many of the syndrome’s effects.