Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO(2)

Mutations in connexin26 (Cx26) underlie a range of serious human pathologies. Previously we have shown that Cx26 hemichannels are directly opened by CO(2) (Meigh et al., 2013). However the effects of human disease-causing mutations on the CO(2) sensitivity of Cx26 are entirely unknown. Here, we report the first connection between the CO(2) sensitivity of Cx26 and human pathology, by demonstrating that Cx26 hemichannels with the mutation A88V, linked to Keratitis-Ichthyosis-Deafness syndrome, are both CO(2) insensitive and associated with disordered breathing in humans. DOI: http://dx.doi.org/10.7554/eLife.04249.001