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The Connexin-deafness homepage

 

Last Update: 19/07/2017

 

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  Introduction
  Connexins and deafness
     - GJB2 (Cx26)
     - GJB3 (Cx31)
     - GJB6 (Cx30)
     - GJB1 (Cx32)
  Mutations databases
     - Nonsyndromic deafness           mutations
     - Syndromic deafness           mutations
     - Frequent mutations
     - Other disease mutations
     - Big deletions or           insertions
  Polymorphisms
     - GJB2 (Cx26)
     - GJB3 (Cx31)
     - GJB6 (Cx30)
  Search engine
  Submit a new mutation
  Reference list
  Links
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Connexin 32 and hearing impairment

Connexin 32 mutations were identified as the cause of X-linked Charcot-Marie-Tooth disease in 1993 (Bergoffen et al.). Charcot Marie Tooth is a progressive peripheral neurodegenerative disorder that presents with demyelination of peripheral neurons, leading to weaknesses in the distal regions of the limbs and to sensory loss. Several mutations in Connexin 32 have been described since the first implication of the gene in this disorder, distributed all over the protein sequence.
Some cases of X-linked Charcot-Marie-Tooth disease also have as a symptom the presence of hearing impairment, due to secondary changes in the auditory system. Specific Connexin 32 mutations cause the presence of deafness as an accompanying symptom.

Cx32 is expressed in Schwann cells where it is thought to form "reflexive " intracellular gap junction communication channels between adjacent loops of non-compacted myelin. The loss or disruption of these channels may lead to loss of an important intracellular signaling pathway.



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