Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

ABSTRACT: Gap junctions are assemblies of intercellular channels that regulate a variety of physiologic and developmental processes through the exchange of small ions and signaling molecules. These channels consist of connexin family proteins that allow for diversity of channel composition and conductance properties. The human connexin 43 gene, or GJA1, is located at human chromosome 6q22-q23 within the candidate region for the oculodentodigital dysplasia locus. This autosomal dominant syndrome presents with craniofacial (ocular, nasal, and dental) and limb dysmorphisms, spastic paraplegia, and neurodegeneration. Syndactyly type III and conductive deafness can occur in some cases, and cardiac abnormalities are observed in rare instances. We found mutations in the GJA1 gene in all 17 families with oc

SUBMITTER: Paznekas WA 

PROVIDER: S-EPMC379233 | biostudies-literature | 2003 Feb

REPOSITORIES: biostudies-literature