Читать книгу Pathology of Genetically Engineered and Other Mutant Mice - Группа авторов - Страница 107

Deafness is associated with several ciliopathies, but the lesions in the inner ear are not detectable by light microscopy. Each sensory hair cell in the cochlea has a single transient nonmotile cilium (kinocilium) located at its apex. This so‐called kinocilium disappears by 12 days postpartum in mice and was long believed to be a transient embryonic organelle without any functional significance. However, kinocilia are required for correct polarization of sensory hair cells in the organ of Corti during development. The kinocilium initially occupies a central position on the sensory hair cell before migrating to the periphery where it is critical for the maturation and correct orientation of stereocilia [86]. There are several recessive mutations in CDC14 cell division cycle 14A (Cdc14a) that result in substantial perinatal lethality in mice, but the deafness and male infertility (abnormal morphology and motility of spermatozoa) phenotypes mirror those seen in humans with mutant CDC14A genotypes [87]. Despite the absence of light microscopic lesions in the cochlea in these cases, the deafness phenotype with concurrent defects affecting spermatozoa flagella would point toward a ciliopathy.