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A novel hearing loss related mutation occurring in the GJB2 basal promoter
  1. Tiago D Matos (tiagomorimatos{at}gmail.com)
  1. Centro de Genética e Biologia Molecular, Instituto de Ciência Aplicada e Tecnologia,, Portugal
    1. Helena Caria (hcaria{at}ess.ips.pt)
    1. Centro de Genética e Biologia Molecular, Instituto de Ciência Aplicada e Tecnologia,, Portugal
      1. Helena Simões-Teixeira (helena.teixeira{at}gmail.com)
      1. Centro de Genética e Biologia Molecular, Instituto de Ciência Aplicada e Tecnologia,, Portugal
        1. Trond Aasen (t.aasen{at}qmul.ac.uk)
        1. Centre for Cutaneous Research, Institute of Cell and Molecular Science,, United Kingdom
          1. Regina Nickel (r.nickel{at}ucl.ac.uk)
          1. UCL, United Kingdom
            1. Daniel Jagger (d.jagger{at}ucl.ac.uk)
            1. UCL, United Kingdom
              1. Assunção O'Neill (assuncao.oneill{at}gmail.com)
              1. 3Serviço ORL, Hospital Egas Moniz,, Portugal
                1. David Kelsell (d.p.kelsell{at}qmul.ac.uk)
                1. ICMS, Queen Mary, University of London, United Kingdom
                  1. Graça Fialho (gfialho{at}cii.fc.ul.pt)
                  1. Centro de Genética e Biologia Molecular, Instituto de Ciência Aplicada e Tecnologia, Portugal

                    Abstract

                    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.

                    • Cx26
                    • GJB2
                    • Promoter
                    • hearing loss

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