Abstract
Mutations in the GJB2 gene are a major cause of non-syndromic recessive hearing loss in many countries. In a significant fraction of patients, only monoallelic GJB2 mutations known to be either recessive or of unclear pathogenicity are identified. This paper reports a novel GJB2 mutation, -3438C-->T, found in the basal promoter of the gene, in trans with V84M, in a patient with profound hearing impairment. This novel mutation can abolish the basal promoter activity of GJB2. These results highlight the importance of extending the mutational screening to regions outside the coding region of GJB2.
Publication types
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Cells, Cultured / metabolism
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Child
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Cochlea / metabolism
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Cochlea / physiopathology
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Connexin 26
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Connexins / chemistry
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Connexins / genetics*
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Connexins / physiology
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Exons / genetics*
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Female
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Fluorescent Dyes / metabolism
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Gap Junctions / genetics*
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Gap Junctions / physiology
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Genes, Reporter
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Genotype
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Hearing Loss, Bilateral / genetics*
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Hearing Loss, Sensorineural / genetics*
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Humans
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Mutation, Missense
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Pedigree
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Point Mutation
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Polymorphism, Single-Stranded Conformational
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Promoter Regions, Genetic / genetics*
Substances
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Connexins
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Fluorescent Dyes
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GJB2 protein, human
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Connexin 26