The genetic defect that causes a rare disease called "SOFT syndrome" has been revealed

This is according to a new study led by Prof. Eli Spercher, head of the skin department at the Tel Aviv Medical Center

Prof. Eli Spercher, head of the dermatology department at the Tel Aviv Medical Center: "The discovery of the genetic defect that causes this rare disease will make it possible to prevent the recurrence of the disease in families suffering from the syndrome. In addition, it also reveals a hitherto unknown aspect of the interrelationship between the skin and the skeletal system"

A study led by Prof. Eli Spercher, director of the dermatology department at the Tel Aviv Medical Center together with Prof. Sattavi Shalu, director of the genetics institute at the Emek Hospital revealed the genetic basis of a rare skin disease called SOFT syndrome which is characterized by an extremely short stature, an abnormal structure of the nails and the hair, as well as unique facial features. The results of the research, which lasted over seven years, were published this week in the prestigious newspaper, The American Journal of Human Genetics.

Decoding the genetic defect responsible for the development of the disease was made possible thanks to the use of advanced technologies with the help of which the scientists discovered that SOFT syndrome results from a defect in the function of a protein called POC1A. Dr. Ofer Sharig from the Tel Aviv Medical Center, who led the final and decisive stage of the research program, explains: "It became clear to us that in the absence of normal POC1A, the body's cells divide very slowly, which well explains the main characteristic of the disease, i.e. a slowdown in the growth and development processes of Various tissues including nails, hairs and bones. Also, with the help of Prof. Mia Horowitz and Dr. Debbie Rappaport from Tel Aviv University, we were able to show that POC1A dysfunction also results in severe damage to the process of building a central part of the body's cells, the golgi system, which plays an important role in the processing and transfer of proteins in the body's cells ".

Prof. Spracher concludes: "The discovery of the genetic defect underlying SOFT syndrome allows us today to offer families suffering from the disease adequate genetic counseling and prenatal diagnosis. In addition, through the study of that disease, we revealed a previously unknown facet of the interrelationships between the skin and the skeletal system, and from this, of course, the possibility arises that our findings will have significance in understanding additional and more common processes in the future."

The research was carried out in collaboration between several institutions in Israel and abroad, including: Tel Aviv Medical Center (Ofer Sharig, Dana Fox, Zhanna Nusbeck, Shirley Israeli, Gili Padlon), Ha'Emek Medical Center (Satavit Shalu, Ronan Spiegel), Tel Aviv University A (Mia Horowitz, Debbie Rapaport), Bnei Zion Medical Center (Zvi Borochiewitz), Technion (Sagi Nahum, Kisi Cohen), Thomas Jefferson University (Yoni Yuto) and Asahikawa University (Akimi Ishida-Yammoto).