title: Connexin mutations in hearing loss, dermatological and neurological disorders.
abstract: Gap junctions are important structures in cell-to-cell communication. Connexins, the protein units of gap junctions, are involved in several human disorders. Mutations in beta-connexin genes cause hearing, dermatological and peripheral nerve disorders. Recessive mutations in the gene encoding connexin 26 (GJB2) are the most common cause of childhood-onset deafness. The combination of mutations in the GJB2 and GJB6 (Cx30) genes also cause childhood hearing impairment. Although both recessive and dominant connexin mutants are functionally impaired, dominant mutations might have in addition a dominant-negative effect on wild-type connexins. Some dominant mutations in beta-connexin genes have a pleiotropic effect at the level of the skin, the auditory system and the peripheral nerves. Understanding the genotype-phenotype correlations in diseases caused by mutations in connexin genes might provide important insight into the mechanisms that lead to these disorders.
authors.affiliation: Deafness Research Group, Genes and Disease Research Program, Center of Genomic Regulation, Barcelona, Spain.
authors.forename: Raquel
authors.initials: R
authors.lastname: Rabionet
authors.forename: Núria
authors.initials: N
authors.lastname: López-Bigas
authors.forename: Maria Lourdes
authors.initials: ML
authors.lastname: Arbonès
authors.forename: Xavier
authors.initials: X
authors.lastname: Estivill
mesh_terms: D020170:Caspase 1; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D007758:Ear, Inner / Q000473:pathology; D017629:Gap Junctions; D005799:Genes, Dominant; D005838:Genotype; D008953:Models, Anatomic; D009154:Mutation; D009422:Nervous System Diseases / Q000235:genetics*; D010523:Peripheral Nervous System Diseases / Q000235:genetics; D010641:Phenotype; D012871:Skin Diseases / Q000235:genetics*; D000097002:Gap Junction beta-1 Protein
chemical_list: D020170:Caspase 1; D000072259:Connexin 26; D017630:Connexins; D000097002:Gap Junction beta-1 Protein; C000607042:GJB2 protein, human