Remarkable new insights into the pathology of Usher syndrome

Human Usher syndrome is the most common form of hereditary deaf-blindness. Researchers have now identified a novel pathomechanism leading to Usher syndrome. They have discovered that the Usher syndrome type 1G protein SANS plays a crucial role in regulating splicing process. Furthermore, they have been able to demonstrate that defects in the SANS protein can lead to errors in the splicing of genes related to the Usher syndrome, which may provoke the disease.

from Latest Science News -- ScienceDaily https://www.sciencedaily.com/releases/2021/07/210712102225.htm