Researchers at the University of Texas Southwestern Medical Center in Dallas have identified a gene thought to be responsible for a common heart and facial birth defect. Scientists report in the journal Science, published today, that the gene for DiGeorge syndrome has been isolated. The report is an important step toward finding new treatments for the serious disorder. Babies born with DiGeorge syndrome, also known as chromosome 22 deletion syndrome, can suffer malformations in the heart, the face and the thymus, a gland that is a key part of the immune system. A team of UT Southwestern researchers led by Dr. Deepak Srivastava found that DiGeorge syndrome could be caused when a child lacked one of two genes called UDF1.
Genes normally come in pairs.
The researchers found that of 182 DiGeorge syndrome patients examined, all lacked one copy of the UDF1 gene. Srivastrava said in a statement that lacking one copy of the gene may cause a disruption of the proteins critical for the formation of heart and facial structures. DiGeorge syndrome affects about one in every 4,000 children. It is the second most common genetic cause of congenital heart defects.