No test needed for hand-foot genital syndrome in women without HOXA13 gene mutation

Hugh S. Taylor, M.D., professor in the Department of Obstetrics, Gynecology & Reproductive Sciences at Yale, and colleagues have found that women without mutations of the HOXA13 gene do not need to be subjected to x-rays and other tests for a rare condition called hand-foot genital syndrome. The research is presented at the American Society for Reproductive Medicine (ASRM) scientific meeting in Atlanta, Georgia, October 17-21.

Hand-foot genital syndrome affects the development of the hands and feet, the urinary tract, and the reproductive system. Some women with this disorder could be at increased risk of pregnancy loss, premature labor and stillbirth. Hand-foot genital syndrome is caused by mutations in the HOXA13 gene, which is one of the genes that control the development of the uterus.

Taylor and colleagues studied women who had classic hand-foot genital syndrome and found a new mutation in the gene that had not been described before. The team then looked at women with other uterine disorders and did not find any mutations in HOXA 13. This ruled out the possibility that they could have hand-foot genital syndrome.

"This finding reduces the need for women to undergo these unnecessary and expensive tests," said Taylor.

This abstract will be presented by first-year Yale medical student Elisa Jorgensen. Other authors include Jane L. Ruman and Leo Doherty.

Taylor will be available to speak to members of the media on Tuesday, October 20 from 9:15 to 9:45 a.m. in Room C211 of the Georgia World Congress Center.

Abstract #: O-57

October 19, 2009