Hostname: page-component-586b7cd67f-g8jcs Total loading time: 0 Render date: 2024-11-26T17:35:37.809Z Has data issue: false hasContentIssue false
  • English
  • Français

The molecular genetics of inherited deafness – current knowledge and recent advances

Published online by Cambridge University Press:  29 June 2007

Rachel E. Hardisty ,
Jane Fleming  and
Karen P. Steel
Rachel E. Hardisty
Affiliation:
MRC Institute of Hearing Research, University Park, Nottingham, UK
Jane Fleming
Affiliation:
MRC Institute of Hearing Research, University Park, Nottingham, UK
Karen P. Steel*
Affiliation:
MRC Institute of Hearing Research, University Park, Nottingham, UK
*
Address for correspondence: Professor Karen P. Steel, MRC Institute of Hearing Research, University Park, Nottingham NG7 2RD. e-mail: karen@ihr.mrcac.uk
Get access Rights & Permissions [Opens in a new window]

Abstract

An abstract is not available for this content so a preview has been provided. Please use the Get access link above for information on how to access this content.
Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Molecular Biology Series
Information
The Journal of Laryngology & Otology , Volume 112 , Issue 5 , May 1998 , pp. 432 - 437
Copyright
Copyright © JLO (1984) Limited 1998

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Abdelhak, S., Kalatzis, V., Heilig, R., Compain, S., Samson, D., Vincent, C., Weil, D., Cruaud, C., Sahly, I., Leibovici, M., BitnerGlindzicz, M., Francis, M., Lacombe, D., Vigneron, J., Charachon, R., Boven, K., Bedbeder, P., VanRegemorter, N., Weissenbach, J., Petit, C. (1997) A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nature Genetics 15: 157–164.Google Scholar
Adato, A., Weill, D., Kalinski, H., Pel-Or, Y., Ayadi, H., Petit, C., Korostishevsky, M., Bonne-Tamir, B. (1997) Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins. American Journal of Human Genetics 61: 813–821.CrossRefGoogle ScholarPubMed
Attie, T., Till, M., Pelet, M., Amiel, J., Edery, P., Boutrand, L., Munnich, A., Lyonnet, S. (1995) Mutation of the endothelin- receptor B gene in Waardenburg-Hirschsprung disease. Human Molecular Genetics 4: 2407–2409.CrossRefGoogle ScholarPubMed
Avraham, K. B., Hasson, T., Steel, K. P., Kingsley, D. M., Russell, L. B., Mooseker, M. S., Copeland, N. G., Jenkins, N. A. (1995) The mouse snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells. Nature Genetics 11:369–375.Google Scholar
Baldwin, C. T., Hoth, C. F., Amos, J. A., Da-Silva, E. O., Milunsky, A. (1992) An exonic mutation in the HuP2 paired domain gene causes Waardenburg syndrome. Nature 355: 637–638.CrossRefGoogle Scholar
Chisaka, O., Musci, T. S., Capecchi, M. R. (1992) Developmental defects of the ear, cranial nerves and hindbrain resulting from targeted disruption of the mouse homeobox gene Hox1.6. Nature 355: 561–563.Google Scholar
Colvin, J. S., Bohne, B. A., Harding, G. W., McEwen, D. G., Ornitz, D. M. (1996) Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Nature Genetics 12: 390–394.Google Scholar
Cordes, S. P., Barsh, G. S. (1994) The mouse segmentation gene, kr encodes a novel basic domain-leucine zipper transcription factor. Cell 63: 175–183.Google Scholar
Denoyelle, F., Weil, D., Maw, M. A., Wilcox, S. A., Lench, N. J., Allen-Powell, D. R., Osborn, A. H., Dahl, H. H. M., Middleton, A., Houseman, M. J., Dode, C., Marlin, S., Boulila-ElGaied, A., Grati, M., Ayadi, H., BenArab, S., Bitoun, P., Lina-Granade, G., Godet, J., Mustapha, M., Loiselet, J., El-Zir, E., Aubois, A., Jonnard, A., Levilliers, J., Garabedian, E. N., Mueller, R. F., McKinlay Gardner, R. J., Petit, C. (1997) Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Human Molecular Genetics 6: 2173–2177.CrossRefGoogle ScholarPubMed
Deol, M. S. (1964a) The origin of the abnormalities in the inner ear in dreher mice. Journal of Embryology and Experimental Morphology 12: 727–723.Google ScholarPubMed
Deol, M. S. (1964b). The abnormalities in the inner ear in kreisler mice. Journal of Embryology and Experimental Morphology 12: 475–490.Google ScholarPubMed
Deol, M. S. (1966) Influence of the neural tube on the differentiation of the inner ear in the mammalian embryo. Nature 209: 219–220.Google Scholar
Dixon, J., Edwards, S. J., Gladwin, A. J., Dixon, M. J., Loftus, S. K., Bonner, C. A., Koprivnikar, K., Wasmuth, J. J. (1996) Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nature Genetics 12: 130–136.Google Scholar
Edery, P., Attie, T., Amiel, J., Pelet, A., Eng, C., Hofstrsa, R. M. W., Martelli, H., Bidaud, C., Munnich, A., Lyonnet, S. (1996) Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nature Genetics 12: 442–444.Google Scholar
Erkman, L., McEvilly, R. J., Luo, L., Ryan, A. K., Hooshmand, F., Oconnell, S. M., Keithley, E. M., Rapaport, D. H., Ryan, A. F., Rosenfeld, M. G. (1996) Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and visual-system development. Nature 381: 603–606.CrossRefGoogle ScholarPubMed
Everett, L. A., Glaser, B., Beck, J. C., Idol, J. R., Buchs, A., Heyman, M., Adawi, F., Hazani, E., Nassir, E., Baxevanis, A. D., Sheffield, V. C., Green, E. D. (1997) Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nature Genetics 17: 411–422.CrossRefGoogle Scholar
Fischel-Ghodsian, N. (1998) Mitochondrial mutations and hearing loss: paradigm for mitichondrial genetics. American Journal of Human Genetics 62: 15–19.Google Scholar
Frohman, M. A., Martin, G. R., Cordes, S. P., Halamek, L. P., Barsh, G. S. (1993) Altered rhombomere-specific gene expression and hyoid bone differentiation in the mouse segmentation mutant, kreisler. Development 117: 925–936.Google Scholar
Gibson, F., Walsh, J., Mburu, P., Varela, A., Brown, K. A., Antonio, M., Beisel, K. W., Steel, K. P., Brown, S. D. M. (1995) A type VII myosin encoded by the mouse deafness gene, shaker-1. Nature 374: 62–64.Google Scholar
Goulding, M., Chalepakis, G., Deutsch, U., Erselius, J. R., Gruss, P. (1991) Pax-3, a novel murine DNA binding protein expressed during early neurogenesis. EMBO Journal 10: 1135–1147.CrossRefGoogle ScholarPubMed
Hadrys, T., Braun, T., Rinkwitz-Brandt, S., Arnold, H. H., Bober, E. (1998) Nkx5.1 controls semicircular canal formation in the mouse inner ear. Development 125: 33–39.CrossRefGoogle ScholarPubMed
Hodgkinson, C. A., Moore, K. J., Nakayama, A., Steingrimsson, E., Copeland, N. G., Jenkins, N. A., Arnheiter, H. (1993) Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix- loop-helix-zipper protein. Cell 74: 395–404.CrossRefGoogle Scholar
Hughes, M. J., Lingrel, J. B., Karkowsky, J. M., Anderson, K. P. (1993) A helix-loop-helix transcription factor-like gene is located at the mi locus. Journal of Biological Chemistry 268: 20687–20690.Google Scholar
Hughes, D. C. (1997) Paradigms and paradoxes: mouse (and human) models of genetic deafness. Audiology and Neurootology 2: 3–11.Google Scholar
Kelsell, D. P., Dunlop, J., Stevens, H. P., Lench, N. J., Liang, J. N., Parry, G., Mueller, R. F., Leigh, I. M. (1997) Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387: 80–83.Google Scholar
Li, X. C., Everett, L. A., Lalwani, A. K., Desmukh, D., Friedman, T. B., Green, E. D., Wilcox, E. R. (1988) A mutation in PDS causes non-syndromic recessive deafness. Nature Genetics 18: 215.CrossRefGoogle Scholar
Liu, X. Z., Walsh, J., Mburu, P., Kendrick Jones, J., Cope, M. J. T. V., Steel, K. P., Brown, S. D. M. (1997a) Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nature Genetics 16: 188–190.CrossRefGoogle ScholarPubMed
Liu, X. Z., Walsh, J., Tamagawa, Y., Kitamura, K., Nishizawa, M., Steel, K. P., Brown, S. D. M. (1997b) Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nature Genetics 17: 268–269.CrossRefGoogle ScholarPubMed
Lufkin, T., Dierich, A., Lemeur, M., Mark, M., Chambon, P. (1991) Disruption of the Hox-1.6 homeobox gene results in defects in a region corresponding to its rostral domain of expression. Cell 66: 1105–1120.CrossRefGoogle Scholar
Lynch, E. D., Lee, M. K., Morrow, J. E., Welcsh, P. L., Leon, P. E., King, M-C. (1997) Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Science 278: 1315–1318.CrossRefGoogle ScholarPubMed
Mansour, S. L., Thomas, K. R., Capecchi, M. R. (1988) Disruption of the proto-oncogene int-2 in mouse embryo derived stem cells, a general strategy for targeting mutations to non-selectable genes. Nature 336: 348–352.CrossRefGoogle ScholarPubMed
Mark, M., Lufkin, T., Voresen, J., Ruberte, R., Olivo, J., Dolle, P., Gorry, P., Lumsden, A., Chambon, P. (1993) Two rhombomeres are altered in Hoxa-1 mutant mice. Development 119: 319–388.Google Scholar
McKay, J., Muchamore, I., Krumlauf, R., Maden, M., Lumsden, A., Lewis, J. (1994) The kreisler mouse, a hindbrain segmentation mutant that lacks two rhombomeres. Development 120: 2199–2211.Google Scholar
Morell, R., Friedman, T. B., Asher, J. H., Robbins, L. G. (1997) The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1). Journal of Medical Genetics 34: 447–452.CrossRefGoogle ScholarPubMed
Morton, N. E. (1991) Genetic epidemiology of hearing impairment. Annals of the New York Academy of Sciences 630: 16–31.Google Scholar
Neyroud, N., Tesson, F., Denjoy, I., Leibovici, M., Donger, C., Barhanin, J., Faure, S., Gary, F., Coumel, P., Petit, C., Schwartz, K., Guicheney, . (1997) A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nature Genetics 15: 186–189.CrossRefGoogle ScholarPubMed
Petit, C. (1996) Genes responsible for human hereditary deafness: symphony of a thousand. Nature Genetics 14: 385–391.Google Scholar
Pingault, V., Bondurand, N., Kuhlbrodt, K., Goerich, D. E., Prehu, M. O., Puliti, A., Herbarth, B., Hermans-Borgmeyer, I., Legius, E., Matthijs, G., Amiel, J., Lyonner, S., Ceccherini, I., Romeo, G., Clayton Smith, J., Read, A. P., Wegner, M., Goossens, M. (1998) SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nature Genetics 18: 171–173.CrossRefGoogle ScholarPubMed
Schulze-Bahr, E., Wang, Q., Wedekind, H., Haverkamp, W., Chen, Q. Y., Sun, Y. L., Rubie, C., Hordt, M., Towbin, J. A., Borggrefe, M., Assmann, G., Qu, X. D., Somberg, J. C., Breithardt, G., Oberti, C., Funke, H. (1997) KCNE1 mutations cause Jervell and Lange-Nielsen syndrome. Nature Genetics 17: 267–268.CrossRefGoogle ScholarPubMed
Self, T., Mahony, M., Fleming, J., Walsh, J., Brown, S. D. M., Steel, K. P. (1998) Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells. Development 125: 557–566.Google Scholar
Steel, K. P. (1995) Inherited hearing defects in mice. Annual Review of Genetics 29: 675–701.Google Scholar
Steel, K. P., Bock, G. R. (1983) Hereditary inner ear abnormalities in humans. Archives of Otolaryngology 109: 22–29.CrossRefGoogle Scholar
Steel, K. P., Brown, S. D. M. (1994) Genes and deafness. Trends in Genetics 10(12): 428–435.Google Scholar
Steel, K. P., Smith, R. J. H. (1992) Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1. Nature Genetics 2: 75–79.Google Scholar
Stopps, K., Macdonald, F. (1948) Linkage analysis and the tracking of susceptibility genes. Journal of Laryngology and Otology 112: 323–330.Google Scholar
Tassabehji, M., Newton, V. E., Read, A. P. (1994) Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nature Genetics 8: 251–255.CrossRefGoogle ScholarPubMed
Tassabehji, M., Read, A. P., Newton, V. E., Harris, R., Balling, R., Gruss, P., Strachan, P. (1992) Waardenburg's syndrome patients have mutations in the human homologue of Pax-3 paired box gene. Nature 355: 635–636.CrossRefGoogle ScholarPubMed
Taylor, R. G., Grieco, D., Clark, G. A., Minnes, R. R., Taylor, B. A. (1993) Identification of the mutation in murine histidinemia (his) and genetic mapping of the murine histidase locus (Hal) on chromosome 10. Genomics 16: 231–240.Google Scholar
Tyson, J., Tranebjaerg, L., Bellman, S., Wren, C., Tatlor, F. N., Bathen, J., Aslaksen, B., Sorland, S. J., Lund, O., Malcolm, S., Pembrey, M., Bhattacharya, S., Bitner-Glindzicz, M. (1997) IsK and KvLQTl: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange- Nielsen syndrome. Human Molecular Genetics 6: 2179–2185.CrossRefGoogle ScholarPubMed
Van Camp, G., Willems, P. J., Smith, R. J. H. (1997) Nonsyndromic hearing impairment: unparalleled heterogeneity. American Journal of Human Genetics 60: 758–764.Google Scholar
Vahava, O., Morell, R., Lynch, E. D., Weiss, S., Kagan, M. E., Ahituv, N., Morrow, J. E., Lee, M. K., Skvorak, A. B., Morton, C. C., Blumenfeld, A., Frydman, M., Friedman, T. B., King, M. C., Avraham, K. B. (1998) Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science 279:1950–1954.Google Scholar
Vetter, D. E., Mann, J. R., Wangemann, P., Liu, J., McLaughlin, K. J., Lesage, F., Marcus, D. C., Lazdunski, M., Heinemann, S. F., Barhanin, J. (1996) Inner ear defects induced by null mutation of the isk gene. Neuron 17: 1251–1264.Google Scholar
Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levillers, J., Weston, M. D., Kelley, P. M., Kimberling, W. J., Wagenaar, M., Levi-Acobas, F., Larget-Piet, D., Munnich, A., Steel, K. P., Brown, S. D. M., Petit, C. (1995) Defective myosin VIIA gene responsible for Usher syndrome type IB. Nature 374: 60–61.Google Scholar
Weil, D., Kussel, P., Blanchard, S., Levy, G., Levi-Acobas, F., Drira, M., Ayadi, H., Petit, C. (1997) The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nature Genetics 16: 191–193.CrossRefGoogle ScholarPubMed
Zelante, L., Gasparini, P., Estivill, X., Melchionda, S., D'Agruma, L., Govea, N., Mila, M., Monica, M. D., Lutfi, J., Shohat, M., Mansfield, E., Delgrosso, K., Rappaport, E., Surrey, S., Fortina, P. (1997) Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness. Human Molecular Genetics 6: 1605–1609.Google Scholar
Zlotogora, J., Lerer, I., Bar-Davis, S., Ergaz, Z., Abeliovich, D. (1995) Homozygosity for Waardenburg syndrome. American Journal of Human Genetics 56: 1173–1178.Google ScholarPubMed