Mutations in the gene GJB2 are a major cause of non-syndromic recessive hearing loss in many countries. In a significant fraction of patients, only monoallelic GJB2 mutations either known to be recessive or of unclear pathogenicity are identified. Here, we report a novel GJB2 mutation, -3438C>T, found in the basal promoter of the gene, in trans with V84M, in a profoundly hearing impaired patient. Also, we prove that this novel mutation can abolish the basal promoter activity of GJB2. We thus demonstrate the importance of extending the mutational screening to regions outside the coding region of GJB2.
- hearing loss
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