Journal article
The M34T Allele Variant of Connexin 26
Genetic testing, Vol.4(4), pp.335-344
12/19/2000
DOI: 10.1089/109065700750065063
PMID: 11216656
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.
Details
- Title: Subtitle
- The M34T Allele Variant of Connexin 26
- Creators
- Robert A Cucci - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology - Head and Neck Surgery, Iowa City, IA 52242Sai Prasad - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Iowa City, IA 52242Philip M Kelley - Boys Town National Research Hospital, Omaha, NEGlenn E Green - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Iowa City, IA 52242Katrien Storm - Department of Medical Genetics, 2610 Antwerp, BelgiumSandra Willocx - Department of Medical Genetics, 2610 Antwerp, BelgiumEdward S Cohn - Boys Town National Research Hospital, Omaha, NEGuy Van Camp - Department of Medical Genetics, 2610 Antwerp, BelgiumRichard J H Smith - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Iowa City, IA 52242
- Resource Type
- Journal article
- Publication Details
- Genetic testing, Vol.4(4), pp.335-344
- DOI
- 10.1089/109065700750065063
- PMID
- 11216656
- NLM abbreviation
- Genet Test
- ISSN
- 1090-6576
- eISSN
- 1557-7473
- Language
- English
- Date published
- 12/19/2000
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984006363602771
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