DFN3, an X chromosome-linked nonsyndromic mixed deafness, is caused by muta
tions in the BRN-4 gene, which encodes a POU transcription factor. Brn-4-de
ficient mice were created and found to exhibit profound deafness, No gross
morphological changes were observed in the conductive ossicles or cochlea,
although there was a dramatic reduction in endocochlear potential. Electron
microscopy revealed severe ultrastructural alterations in cochlear spiral
Ligament fibrocytes. The findings suggest that these fibrocytes, which are
mesenchymal in origin and for which a role in potassium ion homeostasis has
been postulated, may play a critical role in auditory function.