CEP78 is mutated in a distinct type of Usher syndrome

Usher syndrome is a genetic disorder featured by combined visual impairment and hearing loss.  Currently, the genetic basis remains unknown in 20-30% of patients.  In this article, we described the identification of CEP78 as a new gene that leads to a mild Usher syndrome featured by juvenile or adult-onset cone-rod dystrophy and sensorineural hearing loss when mutated.  Our results add additional link between ciliopathy and Usher protein network in photoreceptor cells and inner ear hair cells. (By Dr. Rui Chen, http://jmg.bmj.com/content/early/2016/09/14/jmedgenet-2016-104166 )

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