LA JOLLA, Calif. -- Physicians may be a step closer to pre-natal diagnosis of a rare genetic disorder called Joubert syndrome. This condition, present before birth, affects an area of the brain controlling balance and coordination (see sidebar below, "A San Diego child's story.")
New findings from the University of California, San Diego (UCSD) School of Medicine have identified chromosome 11 as a second site for a gene or genes that cause Joubert syndrome, a disorder that affects about 1 in 30,000 individuals. Prior to this study, chromosome 9 had been the only known site with gene mutations causing the disorder.
The new study, published online in the September issue of the American Journal of Human Genetics, focused on three Middle Eastern families whose relatives had inter-married and passed the genetic defect to several family members.
Characterized by absence or …