Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29

Tight junctions in the cochlear duct are thought to compartmentalize endoly mph and provide structural support for the auditory neuroepithelium. The cl audin family of genes is known to express protein components of tight junct ions in other tissues. The essential function of one of these claudins in t he inner ear was established by identifying mutations in CLDN14 that cause nonsyndromic recessive deafness DFNB29 in two large consanguineous Pakistan i families. In situ hybridization and immunofluorescence studies demonstrat ed mouse claudin-14 expression in the sensory epithelium of the organ of Co rti.