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The  DFNB31  gene plays an indispensable role in the cochlea and retina. Mutations in this gene disrupt its various isoforms and lead to non-syndromic deafness, blindness and deaf-blindness. However, the known expression of  Dfnb31 , the mouse ortholog of  DFNB31 , in vestibular organs and the potential vestibular-deficient phenotype observed in one  Dfnb31  mutant mouse ( Dfnb31 wi/wi  ) suggest that  DFNB31  may also be important for vestibular function. In this study, we find that full-length (FL-) and C-terminal (C-) whirlin isoforms are expressed in the vestibular organs, where their stereociliary localizations are similar to those of developing cochlear inner hair cells. No whirlin is detected in  Dfnb31 wi/wi   vestibular organs, while only C-whirlin is expressed in  Dfnb31 neo/neo   vestibular organs. Both FL- and C-whirlin isoforms are required for normal vestibular stereociliary growth, although they may play slightly different roles in the central and peripheral zones of the crista ampullaris. Vestibular sensory-evoked potentials demonstrate severe to profound vestibular deficits in  Dfnb31 neo/neo   and  Dfnb31 wi/wi   mice. Swimming and rotarod tests demonstrate that the two  Dfnb31  mutants have balance problems, with  Dfnb31 wi/wi   mice being more affected than  Dfnb31 neo/neo   mice. Because  Dfnb31 wi/wi   and  Dfnb31 neo/neo   mice faithfully recapitulate hearing and vision symptoms in patients, our findings of vestibular dysfunction in these  Dfnb31  mutants raise the question of whether  DFNB31 -deficient patients may acquire vestibular as well as hearing and vision loss.

A study of whirlin isoforms in the mouse vestibular system suggests potential vestibular dysfunction in DFNB31 -deficient patients