Inherited connexin mutations associated with hearing loss

Karen B. Avraham*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

One of the most dramatic discoveries in the field of hereditary hearing loss is the association of this sensory defect with connexin mutations. Most significant is the large proportion, 30-50%, of inherited hearing loss that is due to mutations in connexin 26. The proteins these genes encode are expressed in the cochlear duct, in regions containing gap junctions. Together, these findings suggest a crucial role for gap junction proteins in the mammalian inner ear. Mouse models with specific connexin mutations leading to deafness will help resolve the many questions regarding the role of these gap junction proteins in the inner ear.

Original languageEnglish
Pages (from-to)419-424
Number of pages6
JournalCell Adhesion and Communication
Volume8
Issue number4-6
StatePublished - 2000

Funding

FundersFunder number
Israel Ministry of Science, Culture & Sport
NIWFogarty1 R03 TWO1 108-01
European CommissionQLG2-1999-00988
Israel Academy of Sciences and Humanities

    Keywords

    • Connexin 26
    • Deafness
    • Hearing loss
    • Israel
    • Mutations

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