Connexins and deafness

A large number of subjects are affected by hearing impairment. In developed countries deafness has an important genetic origin and at least 60% of the cases are inherited. The pattern of inheritance can be dominant, recessive, X-linked and mitochondrial.

Many genes are involved in the different types of deafness (syndromic and non-syndromic). Non-syndromic hereditary deafness is mainly (80%) due to recessive genes (or mutations). It is believed that more than one hundred genes could be involved in hearing impairment. Several of these genes have been identified recently by positional cloning or positional candidate gene approaches.

Despite the fact that more than 20 loci have been described for non-syndromic autosomal recessive deafness (DFNB), a single locus, DFNB1, accounts for a high proportion of the cases, with variability depending on the population. The gene involved in this type of deafness is GJB2, which encodes the gap junction protein connexin 26(Cx26). NEW Recent data indicates that DFNB1 can also be due to a deletion of 342Kb involving GJB6, a gene that is very close to GJB2. This deletion has been reported to cause deafness both in the homozygous status and in heterozygosity with a GJB2 point mutation in trans (see big deletions affecting connexin genes...).

Connexins are transmembrane proteins that form channels allowing rapid transport of ions or small molecules between cells. There are two types of connexins, alpha and beta, named GJA or GJB followed by a number. Connexins are expressed in many different tissues.

Other connexin genes are also involved in deafness. These are GJB1 (Cx32), which is also responsible for X-linked Charcot-Marie-Tooth disease type I; GJB3 (Cx31), involved in both deafness or a skin disease, erythrokeratodermia variabilis, depending on the location of the mutation; GJB6 (Cx30), which has been related to a dominant type of deafness in an Italian family and NEW GJA1 (Cx43), which has recently been shown to be involved in recessive deafness.

Editors: Xavier Estivill and Paolo Gasparini

If you want to report any new mutation please use the new submit mutation link of the contents. All the information submitted will be handed to the editors before appearing in this page.

This page will be updated periodically. If you have any comments, e-mail any of the editors.

The logo of the Connexin-deafness page is a photograph of a staircase of a campanile in the expiatory temple of the Sagrada Familia by Gaudí in Barcelona.

Kelly Rabionet is no longer maintaining this site, but you can still contact her at kelly.rabionet@duke.edu.

This page is now maintained by the Deafness Research Group (CRG)

The Deafness Research Group is formed by Ester Ballana, Marina Ventayol and Xavier Estivill.

Citing this page:Ballana E, Ventayol M, Rabionet R, Gasparini P, Estivill X. Connexins and deafness Homepage. World wide web URL: http://www.crg.es/deafness