The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1

Abstract

The c.2299delG mutation in usherin causes loss of hearing and vision. Here, the authors show in a mouse model of this disease that the expression of mutant usherin leads to retinitis pigmentosa and structural defects in the photoreceptor cilium associated with mislocalization of VLGR1 and WHRN.