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Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

Nature Genetics volume 23, pages 16–18 (1999)Cite this article

Hearing loss is mainly due to genetic factors1. Mutations in the connexin-26 gene (GJB2), located on 13q12, are responsible for non-syndromic recessive and dominant forms of deafness2,3,4. Connexin-31 and connexin-32 have also been implicated in deafness5,6. The identification of deaf families linked to 13q12 but negative for mutations in GJB2 (ref. 7) suggested the presence of other deafness genes in this region. Recently, the mouse connexin-30 gene (Gjb6), which is expressed in cochlea, has been mapped to a region with syntenic homology to human chromosome 13q12 (refs 8,9). To verify if human GJB6 is involved in deafness, we cloned a 1,799-bp cDNA fragment containing an ORF of 261 amino acids (EMBL HSA005585). CX30 protein has a structure similar to that of other connexins10 and shares 93% homology with mouse Cx30 and 76% identity with human CX26. GJB6 is not interrupted by introns and maps to chromosome 13q12, approximately 800 kb centromeric to GJB2 .

Northern blots, RT-PCR and in situ hybridization on mouse embryos revealed Gjb6 expression in trachea, thyroid, thymus, brain and cochlea, confirming reported expression patterns (refs 8,9,11).

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Figure 1: GJB6 mutational results.
Figure 2: Electrophysiological studies on paired X.laevis oocytes.

References

  1. Cohen, M.M. Jr & Gorlin, R.J. Hereditary Hearing Loss and its Syndromes 9–21 (Oxford University Press, Oxford, 1995).

    Google Scholar 

  2. Kelsell, D.P. et al. Nature 387, 80–83 (1997).

    Article  CAS  Google Scholar 

  3. Zelante, L. et al. Hum. Mol. Genet. 9, 1605– 1609 (1997).

    Article  Google Scholar 

  4. Denoyelle, F. et al. Nature 393, 319–320 (1998).

    Article  CAS  Google Scholar 

  5. Xia, J.H. et al. Nature Genet. 20, 370– 373 (1998).

    Article  CAS  Google Scholar 

  6. Stojkovic, T., Latour, P., Vandenberghe, A., Hurtevent, J.F. & Vermersch, P. Neurology 52, 1010–1014 (1999).

    Article  CAS  Google Scholar 

  7. Estivill, X. et al. Lancet 351, 394–398 (1998).

    Article  CAS  Google Scholar 

  8. Dahl, E. et al. J. Biol. Chem. 271, 17903– 17910 (1996).

    Article  CAS  Google Scholar 

  9. Lautermann, J. et al. Cell Tissue Res. 294, 415– 420 (1998).

    Article  CAS  Google Scholar 

  10. Kunzelman, P. et al. Glia 25, 111–119 (1999).

    Article  Google Scholar 

  11. Ebihara, L. Methods Enzymol. 207, 376–380 (1992).

    Article  CAS  Google Scholar 

  12. Harris, A.L., Spray, D.C. & Bennett, M.V.L. J. Gen. Physiol. 77, 95– 117 (1981).

    Article  CAS  Google Scholar 

  13. Spray, D.C., Harris, A.L. & Bennett, M.V.L. J. Gen. Physiol. 77, 77– 93 (1981).

    Article  CAS  Google Scholar 

  14. White, W.T., Deans, M., Kelsell, D. & Paul, D. Nature 394, 630 (1998).

    Article  CAS  Google Scholar 

  15. Pusch, M., Steinmeyer, K., Koch, M.C. & Jentsch, T. Neuron 15, 1455–1463 ( 1995).

    Article  CAS  Google Scholar 

Download references

Acknowledgements

This study was supported by grants from Telethon, Italian Ministry of Health and CNR-PF.Biotecnologie (to P.G.); EC (CT 98-3514), Federal Ministry of Education, Science, Research and Technology (Fö. 01KS9602) and Interdisciplinary Center for Clinical Research (to C.A.W. and F.L.); and Fondo de Investigaciones Sanitarias de la Seguridad Social (to N.L.-B., R.R. and X.E.).

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Authors and Affiliations

  1. Servizio di Genetica Medica, IRCCS-Ospedale "CSS", San Giovanni Rotondo, Italy

    Anna Grifa, Lucrezia D'Ambrosio, Salvatore Melchionda, Leopoldo Zelante & Paolo Gasparini

  2. Institute of Physiology, University of Tübingen, Gmelinstr. 5, Tübingen, 72076, Germany

    Carsten A. Wagner & Florian Lang

  3. Dipartimento di Biochimica, Università degli Studi di Ferrara, Italy

    Francesco Bernardi

  4. Departament de Genetica Molecular, IRO-Hospital Durani Reynals, Barcelona, Spain

    Nuria Lopez-Bigas, Raquel Rabionet, Mariona Arbones & Xavier Estivill

  5. Servizio di Genetica Medica, Ospedale "G.Moscati", Avellino, Italy

    Matteo Della Monica

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  1. Anna Grifa
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Correspondence to Paolo Gasparini.

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Grifa, A., Wagner, C., D'Ambrosio, L. et al. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet 23, 16–18 (1999). https://doi.org/10.1038/12612

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