D184E mutation in aquaporin-4 gene impairs water permeability and links to deafness

▶A mutational screening of AQP4 gene was performed on subjects with hearing loss. ▶D184E missense mutation was identified in a Spanish sporadic case. ▶D184E induces a significant reduction in water permeability. ▶D184E affects the mobility of AQP4 D loop. ▶D184E could confer a higher susceptibility to deafness.