TBL1 was originally cloned in relationship to an X-linked human disorder, Ocular Albinism with late-onset Sensorineural Deafness (OASD), in which deletion of TBL1 was suggested to be responsible for the hearing defect (Bassi et al, 1999). Here, TBL1Y is linked to ocular albinism with late-onset sensorineural deafness.