Connexin Mutations in Pelizaeus–Merzbacher-Like Disease, Oculodentodigital Dysplasia and Related Diseases

摘要: Central nervous system (CNS) glia and neurons express connexins, the proteins that form gap junctions in vertebrates. Mutations three connexin genes, GJA1 , GJB1 GJC2 are associated with significant CNS disease. Recessive mutations coding for 47 (Cx47), cause Pelizaeus–Merzbacher-like disease type 1, characterized by nystagmus, cerebellar ataxia spasticity, abnormal myelination. Hereditary spastic paraparesis is also caused a mutation. Cx43, dominant pleiotropic disorder, oculodentodigital dysplasia, oculofacial abnormalities (microphthalmia, syndactyly dental abnormalities) neurological manifestations, recessive related Hallermann–Streiff syndrome. This chapter describes clinical phenotypes of GJC2- -associated disease, followed discussion distribution physiological roles connexins expressed oligodendrocytes (e.g. Cx47, Cx32) astrocytes Cx26, Cx30, Cx43), mechanisms which or may lead to human