Connexin 26: Required for normal auditory function

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

doi:10.1016/S0165-0173(99)00080-6

Connexin 26: Required for normal auditory function

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

Research output: Contribution to journal › Review article › peer-review

29 Scopus citations

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 language	English (US)
Pages (from-to)	184-188
Number of pages	5
Journal	Brain Research Reviews
Volume	32
Issue number	1
DOIs	https://doi.org/10.1016/S0165-0173(99)00080-6
State	Published - Mar 24 2000

Keywords

Connexin 26
Deafness
Hearing loss
Mutation

ASJC Scopus subject areas

Neuroscience(all)
Clinical Neurology

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10.1016/S0165-0173(99)00080-6

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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.}",

note = "Funding Information: This work was supported in part by NIH-NIDCD P01 DC01813-05 (W.J.K.). Submitted August 13, 1999.",

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T1 - Connexin 26

T2 - Required for normal auditory function

AU - Kelley, Philip M.

AU - Cohn, Edward

AU - Kimberling, William J.

N1 - Funding Information: This work was supported in part by NIH-NIDCD P01 DC01813-05 (W.J.K.). Submitted August 13, 1999.

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

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Connexin 26: Required for normal auditory function

Abstract

Keywords

ASJC Scopus subject areas

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