The M34T allele variant of Connexin 26

R. A. Cucci, S. Prasad, P. M. Kelley, G. E. Green, K. Storm, S. Willocx, E. S. Cohn, G. Van Camp, R. J.H. Smith

Research output: Contribution to journalArticle

43 Citations (Scopus)

Abstract

GJB2 encodes the protein Connexin 26, one of the building blocks of gap junctions. Each Connexin 26 molecule can oligomerize with five other connexins to form a connexon; two connexons, in turn, can form a gap junction. Because mutations in GJB2 are the most common cause of congenital severe-to-profound autosomal recessive nonsyndromic hearing loss, the effect of the Connexin 26 allele variants on this dynamic 'construction' process and the function of any gap junctions that do form is particularly germane. One of the more controversial allele variants, M34T, has been hypothesized to cause autosomal dominant nonsyndromic hearing loss. In this paper, we present clinical and genotypic data that refutes this hypothesis and suggests that the effect of the M34T allele variant may be dependent on the mutations segregating in the opposing allele.

Original languageEnglish (US)
Pages (from-to)335-344
Number of pages10
JournalGenetic Testing
Volume4
Issue number4
DOIs
StatePublished - Dec 1 2000

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Gap Junctions
Alleles
Mutation
Connexins
Connexin 26
Proteins
Nonsyndromic Deafness

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Cucci, R. A., Prasad, S., Kelley, P. M., Green, G. E., Storm, K., Willocx, S., ... Smith, R. J. H. (2000). The M34T allele variant of Connexin 26. Genetic Testing, 4(4), 335-344. https://doi.org/10.1089/109065700750065063

The M34T allele variant of Connexin 26. / Cucci, R. A.; Prasad, S.; Kelley, P. M.; Green, G. E.; Storm, K.; Willocx, S.; Cohn, E. S.; Van Camp, G.; Smith, R. J.H.

In: Genetic Testing, Vol. 4, No. 4, 01.12.2000, p. 335-344.

Research output: Contribution to journalArticle

Cucci, RA, Prasad, S, Kelley, PM, Green, GE, Storm, K, Willocx, S, Cohn, ES, Van Camp, G & Smith, RJH 2000, 'The M34T allele variant of Connexin 26', Genetic Testing, vol. 4, no. 4, pp. 335-344. https://doi.org/10.1089/109065700750065063
Cucci RA, Prasad S, Kelley PM, Green GE, Storm K, Willocx S et al. The M34T allele variant of Connexin 26. Genetic Testing. 2000 Dec 1;4(4):335-344. https://doi.org/10.1089/109065700750065063
Cucci, R. A. ; Prasad, S. ; Kelley, P. M. ; Green, G. E. ; Storm, K. ; Willocx, S. ; Cohn, E. S. ; Van Camp, G. ; Smith, R. J.H. / The M34T allele variant of Connexin 26. In: Genetic Testing. 2000 ; Vol. 4, No. 4. pp. 335-344.
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AU - Prasad, S.

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AU - Green, G. E.

AU - Storm, K.

AU - Willocx, S.

AU - Cohn, E. S.

AU - Van Camp, G.

AU - Smith, R. J.H.

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