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

69 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

Fingerprint

Hearing Disorders
Connexins
Nervous System Diseases
Hearing Loss
Mutation
Genes
Peripheral Nerves
Gap Junctions
Genetic Association Studies
Deafness
Cell Communication
Hearing
Skin

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Connexin mutations in hearing loss, dermatological and neurological disorders. / Rabionet, Raquel; López-Bigas, Núria; Arbonès, Maria Lourdes; Estivill, Xavier P.

In: Trends in Molecular Medicine, Vol. 8, No. 5, 2002, p. 205-212.

Research output: Contribution to journalReview article

Rabionet, Raquel ; López-Bigas, Núria ; Arbonès, Maria Lourdes ; Estivill, Xavier P. / Connexin mutations in hearing loss, dermatological and neurological disorders. In: Trends in Molecular Medicine. 2002 ; Vol. 8, No. 5. pp. 205-212.
@article{2e032138577744c189e9e0edf7916a62,
title = "Connexin mutations in hearing loss, dermatological and neurological disorders",
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.",
author = "Raquel Rabionet and N{\'u}ria L{\'o}pez-Bigas and Arbon{\`e}s, {Maria Lourdes} and Estivill, {Xavier P.}",
year = "2002",
doi = "10.1016/S1471-4914(02)02327-4",
language = "English",
volume = "8",
pages = "205--212",
journal = "Trends in Molecular Medicine",
issn = "1471-4914",
publisher = "Elsevier Limited",
number = "5",

}

TY - JOUR

T1 - Connexin mutations in hearing loss, dermatological and neurological disorders

AU - Rabionet, Raquel

AU - López-Bigas, Núria

AU - Arbonès, Maria Lourdes

AU - Estivill, Xavier P.

PY - 2002

Y1 - 2002

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0036247733&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0036247733&partnerID=8YFLogxK

U2 - 10.1016/S1471-4914(02)02327-4

DO - 10.1016/S1471-4914(02)02327-4

M3 - Review article

VL - 8

SP - 205

EP - 212

JO - Trends in Molecular Medicine

JF - Trends in Molecular Medicine

SN - 1471-4914

IS - 5

ER -