title: Syndromic and non-syndromic disease-linked Cx43 mutations.
abstract: There are now at least 14 distinct diseases linked to germ line mutations in the 21 genes that encode the connexin (Cx) family of gap junction proteins. This review focuses on the links between germ-line mutations in the gene encoding Cx43 (GJA1) and the human disease termed oculodentodigital dysplasia (ODDD). This disease is clinically characterized by soft tissue fusion of the digits, abnormal craniofacial bone development, small eyes and loss of tooth enamel. However, the disease is considerably more complex and somewhat degenerative as patients often suffer from other syndromic effects that include incontinence, glaucoma, skin diseases and neuropathies that become more pronounced during aging. The challenge continues to be understanding how distinct Cx43 gene mutations cause such a diverse range of tissue phenotypes and pathophysiological changes while other Cx43-rich organs are relatively unaffected. This review will provide an overview of many of these studies and distill some themes and outstanding questions that need to be addressed in the coming years.
authors.affiliation: Department of Anatomy and Cell Biology, University of Western Ontario, London, Ontario N6A 5C1, Canada; Department of Physiology and Pharmacology, University of Western Ontario, London, Ontario N6A 5C1, Canada. Electronic address: Dale.laird@schulich.uwo.ca.
authors.forename: Dale W
authors.initials: DW
authors.lastname: Laird
mesh_terms: D000818:Animals; D018031:Connexin 43 / Q000235:genetics* / Q000378:metabolism; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005124:Eye Abnormalities / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005532:Foot Deformities, Congenital / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D017629:Gap Junctions / Q000235:genetics / Q000378:metabolism; D018095:Germ-Line Mutation; D006801:Humans; D010641:Phenotype; D013576:Syndactyly / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D014071:Tooth Abnormalities / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
chemical_list: D018031:Connexin 43
keywords: Cx43; Gap junction; Germ-line; Oculodentodigital dysplasia