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A novel hearing loss-related mutation occurring in the GJB2 basal promoter
  1. T D Matos1,4,
  2. H Caria1,2,
  3. H Simões-Teixeira1,
  4. T Aasen4,
  5. R Nickel5,
  6. D J Jagger5,
  7. A O’Neill3,
  8. D P Kelsell4,
  9. G Fialho1
  1. 1
    Centro de Genética e Biologia Molecular, Instituto de Ciência Aplicada e Tecnologia, Universidade de Lisboa, Lisboa, Portugal
  2. 2
    Escola Superior de Saúde, Instituto Politécnico de Setúbal, Setúbal, Portugal
  3. 3
    Serviço ORL, Hospital Egas Moniz, Lisboa, Portugal
  4. 4
    Centre for Cutaneous Research, Institute of Cell and Molecular Science, Queen Mary, University of London, Whitechapel, London, UK
  5. 5
    Centre for Auditory Research, UCL Ear Institute, University College London, London, UK
  1. Professor David P Kelsell, Centre for Cutaneous Research, Institute of Cell and Molecular Science, 4 Newark Street, Whitechapel, London E1 2AT, UK; d.p.kelsell{at}


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.

  • GJB2
  • connexin 26
  • Cx26
  • promoter
  • hearing loss

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  • Competing interests: None declared.

  • Abbreviations:
    enhanced green fluorescent protein
    lucifer yellow
    non-syndromic sensorineural hearing loss
    single-strand confomational polymorphism
    transcription start point
    untranslated region