DNA generic 248.88.
(photo credit: Courtesy)
A rare syndrome that enlarges their skulls, twists their spines and ages their skin has been identified for the first time among Arab Israelis who inbreed (marry their first cousins).
Prof. Eli Sprecher, chief of dermatology at Tel Aviv Sourasky Medical Center, headed a team that identified the "new disease" in three male patients.
The findings of his team, which received help from staffers at Hadassah University, Rabin and Rambam Medical Centers, have just been published in the prestigious American Journal of Human Genetics.
While the syndrome has been found in two generations of Arab men from one family, "we will certainly receive reports of others when the word goes out to the Arab world about this newly identified syndrome. This always happens," Sprecher told The Jerusalem Post.
The syndrome is called MACS, an anagram for macrocephaly (large skull); alopecia (balding), cutis laxa (loose skin) and scoliosis (twisted spine). The team identified the mutated gene and the missing protein (RIN1) that causes the unique combination of symptoms.
"It was accomplished by cooperation among many people, including Rabin Medical Center geneticist Dr. Nina Basel and Dr. Ofer Sarig at our hospital," Sprecher said.
They used both gene mapping and a test of gene expression. The syndrome fortunately does not result in mental retardation and is not fatal among the children of consanguineous couples.
"Now we want to find out what the missing protein does in healthy people. Maybe we can learn more about the ageing process in general," he said.