Connexin mutations in hearing loss, dermatological and neurological disorders

Raquel Rabionet, Núria López-Bigas, Maria Lourdes Arbonès, Xavier P. Estivill

Research output: Contribution to journalReview article

70 Citations (Scopus)

Abstract

Gap junctions are important structures in cell-to-cell communication. Connexins, the protein units of gap junctions, are involved in several human disorders. Mutations in β-connexin genes cause hearing, dermatological and peripheral nerve disorders. Recessive mutations in the gene encoding connexin 26 (GJB2) are the most common cause of childhood-onset deafness. The combination of mutations in the GJB2 and GJB6(Cx30) genes also cause childhood hearing impairment. Although both recessive and dominant connexin mutants are functionally impaired, dominant mutations might have in addition a dominant-negative effect on wild-type connexins. Some dominant mutations in β-connexin genes have a pleiotropic effect at the level of the skin, the auditory system and the peripheral nerves. Understanding the genotype-phenotype correlations in diseases caused by mutations in connexin genes might provide important insight into the mechanisms that lead to these disorders.

Original languageEnglish
Pages (from-to)205-212
Number of pages8
JournalTrends in Molecular Medicine
Volume8
Issue number5
DOIs
Publication statusPublished - 2002
Externally publishedYes

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ASJC Scopus subject areas

  • Medicine(all)

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