CEP78 is mutated in a distinct type of Usher syndrome

Conclusions
Our results provide evidence that CEP78 is a novel disease-causing gene for Usher syndrome, demonstrating an additional link between ciliopathy and Usher protein network in photoreceptor cells and inner ear hair cells.

Source: Journal of Medical Genetics - February 17, 2017 Category: Genetics & Stem Cells Authors: Fu, Q., Xu, M., Chen, X., Sheng, X., Yuan, Z., Liu, Y., Li, H., Sun, Z., Li, H., Yang, L., Wang, K., Zhang, F., Li, Y., Zhao, C., Sui, R., Chen, R. Tags: Eye Diseases, Hereditary eye disease, Genetic screening / counselling New loci Source Type: research