Connexin 26: Required for normal auditory function

Philip M. Kelley, Edward Cohn, William J. Kimberling

Research output: Contribution to journalReview article

29 Citations (Scopus)

Abstract

A single base deletion mutation, 35delG, in the gene (GJB2/DFNB1)(OMIM 121011/220290) encoding the gap junction protein, connexin 26 is the most important single cause of genetic hearing loss in European and American populations. It is the cause of one of the most common human genetic disorders with a frequency similar to cystic fibrosis. Mutations in this connexin are associated with skin disorders. (C) 2000 Elsevier Science B.V.

Original languageEnglish (US)
Pages (from-to)184-188
Number of pages5
JournalBrain Research Reviews
Volume32
Issue number1
DOIs
StatePublished - Mar 24 2000

Fingerprint

Connexins
Genetic Databases
Inborn Genetic Diseases
Sequence Deletion
Medical Genetics
Hearing Loss
Cystic Fibrosis
Skin
Mutation
Population
Genes
Connexin 26

Keywords

  • Connexin 26
  • Deafness
  • Hearing loss
  • Mutation

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

Cite this

Connexin 26 : Required for normal auditory function. / Kelley, Philip M.; Cohn, Edward; Kimberling, William J.

In: Brain Research Reviews, Vol. 32, No. 1, 24.03.2000, p. 184-188.

Research output: Contribution to journalReview article

Kelley, PM, Cohn, E & Kimberling, WJ 2000, 'Connexin 26: Required for normal auditory function', Brain Research Reviews, vol. 32, no. 1, pp. 184-188. https://doi.org/10.1016/S0165-0173(99)00080-6
Kelley, Philip M. ; Cohn, Edward ; Kimberling, William J. / Connexin 26 : Required for normal auditory function. In: Brain Research Reviews. 2000 ; Vol. 32, No. 1. pp. 184-188.
@article{64bcd456626f4463a735e9331ea3060f,
title = "Connexin 26: Required for normal auditory function",
abstract = "A single base deletion mutation, 35delG, in the gene (GJB2/DFNB1)(OMIM 121011/220290) encoding the gap junction protein, connexin 26 is the most important single cause of genetic hearing loss in European and American populations. It is the cause of one of the most common human genetic disorders with a frequency similar to cystic fibrosis. Mutations in this connexin are associated with skin disorders. (C) 2000 Elsevier Science B.V.",
keywords = "Connexin 26, Deafness, Hearing loss, Mutation",
author = "Kelley, {Philip M.} and Edward Cohn and Kimberling, {William J.}",
year = "2000",
month = "3",
day = "24",
doi = "10.1016/S0165-0173(99)00080-6",
language = "English (US)",
volume = "32",
pages = "184--188",
journal = "Brain Research Reviews",
issn = "0165-0173",
publisher = "Elsevier",
number = "1",

}

TY - JOUR

T1 - Connexin 26

T2 - Required for normal auditory function

AU - Kelley, Philip M.

AU - Cohn, Edward

AU - Kimberling, William J.

PY - 2000/3/24

Y1 - 2000/3/24

N2 - A single base deletion mutation, 35delG, in the gene (GJB2/DFNB1)(OMIM 121011/220290) encoding the gap junction protein, connexin 26 is the most important single cause of genetic hearing loss in European and American populations. It is the cause of one of the most common human genetic disorders with a frequency similar to cystic fibrosis. Mutations in this connexin are associated with skin disorders. (C) 2000 Elsevier Science B.V.

AB - A single base deletion mutation, 35delG, in the gene (GJB2/DFNB1)(OMIM 121011/220290) encoding the gap junction protein, connexin 26 is the most important single cause of genetic hearing loss in European and American populations. It is the cause of one of the most common human genetic disorders with a frequency similar to cystic fibrosis. Mutations in this connexin are associated with skin disorders. (C) 2000 Elsevier Science B.V.

KW - Connexin 26

KW - Deafness

KW - Hearing loss

KW - Mutation

UR - http://www.scopus.com/inward/record.url?scp=0034108847&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0034108847&partnerID=8YFLogxK

U2 - 10.1016/S0165-0173(99)00080-6

DO - 10.1016/S0165-0173(99)00080-6

M3 - Review article

C2 - 10751669

AN - SCOPUS:0034108847

VL - 32

SP - 184

EP - 188

JO - Brain Research Reviews

JF - Brain Research Reviews

SN - 0165-0173

IS - 1

ER -