Researchers at Schneider Children’s have announced the discovery of a new gene - ST14 encoding protein matriptase - that causes a congenital skin abnormality (very dry peeling skin and dry,
poorly-growing hair). Their findings were published recently in the American Journal for Human Genetics. The team of researchers, led by Dr. Lina Basel and Prof. Motti Shohat, Director of the Genetics Institute, worked in cooperation with physicians in the Department of Dermatologyand described a new genetic syndrome that causes flaking of the skin and changes in the hair called Autosomal Recessive Ichtyosis and Hypotrychosis Syndrome (ARIH).

Initially, doctors succeeded in isolating the new gene located on chromosome 11.
In the second stage, the gene itself, known as ST14, was identified. The gene produces an important protein called matriptase. Continued experiments showed that a genetic mutation caused flaking of the epidermis leading to dry peeling skin. An experiment conducted with laboratory mice which lacked the gene entirely, revealed that the mice could not survive the rapid loss of body fluid due to their damaged skin.

“The identification of the gene has many ramifications for continued medical research,” said Dr. Lina Basel, senior physician at the Genetics Institute at Schneider Children’s. “It is important to note that it is possible today to decipher the genetic mutation in families with several children with unidentified diseases, and to assist them through early diagnosis.”

Additional patients with this syndrome have been identified worldwide since the discovery of the gene. Identification of the gene enables precise diagnosis of the patients, and opens a new scientific horizon in understanding skin and hair abnormalities.


March 2007