Hostname: page-component-cd9895bd7-jn8rn Total loading time: 0 Render date: 2024-12-27T19:16:46.092Z Has data issue: false hasContentIssue false
  • English
  • Français

The molecular genetics of inherited deafness – current and future applications

Published online by Cambridge University Press:  29 June 2007

Tracy J. Bussoli  and
Karen P. Steel
Tracy J. Bussoli
Affiliation:
MRC Institute of Hearing Research, University Park, Nottingham, NG7 2RD, UK.
Karen P. Steel
Affiliation:
MRC Institute of Hearing Research, University Park, Nottingham, NG7 2RD, 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 6 , June 1998 , pp. 523 - 530
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., Hellig, 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., Van-Regemorter, N., Weissenbach, J., Petit, C. (1997) A human homologue of the Drosophila gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family. Nature Genetics 15: 157–164.CrossRefGoogle ScholarPubMed
Arnos, K. (1994). Hereditary hearing loss. New England Journal of Medicine 331: 469–470.CrossRefGoogle ScholarPubMed
Arnos, K., Cunningham, M., Israel, J., Marazita, M. (1992a) Innovative approach to genetic counselling services for the deaf population. American Journal of Medical Genetics 44: 345–351.CrossRefGoogle ScholarPubMed
Arnos, K., Israel, J., Devlin, L., Wilson, M. (1992b) Genetic counselling for the deaf. Otolaryngologic Clinics of North America 25: 953–971.CrossRefGoogle ScholarPubMed
Campbell, K. C. M., Meech, R. P., Rybak, L. P., Hughes, L. F. (1998) D-Methionine provides protection against cisplatin damage in the rat stria vascularis: a semi-quantitative analysis. Association for Research in Otolaryngology. St Petersburg Beach Florida. Meeting Abstract No. 537.Google Scholar
Campbell, K. C. M., Rybak, L. P., Meech, R. P., Hughes, L. (1996) D-Methionine provides excellent protection from cisplatin ototoxicity in the rat. Hearing Research 102: 90–98.CrossRefGoogle ScholarPubMed
Carrasquillo, M. M., Zlotogora, J., Barges, S., Chakravarti, A. (1997) Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. Human Molecular Genetics 6: 2163–2172.CrossRefGoogle Scholar
Conlon, B. J., Smith, D. W. (1998) Supplemental iron exacerbates aminoglycoside ototoxicity in vivo. Association for Research in Otolaryngology. St. Petersburg Beach Florida. Meeting Abstract No. 530.CrossRefGoogle Scholar
de Kok, Y. J., Van der Maarel, S. M., Bitner-Glindzicz, M., Huber, I., Monaco, A. P., Malcolm, S., Pembrey, M. E., Ropers, H. H., Cremers, F. P. (1995) Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 267: 685–688.CrossRefGoogle ScholarPubMed
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., Dodé, C., Marlin, S., Boulila-ElGaïed, A., Grati, M., Ayadi, H., BenArab, S., Bitoun, P., Lina-Granade, G., Godet, J., Mustapha, M., Loiselet, J., El-Zir, E., Aubois, A., Joannard, A., Levilliers, J., Garabédian, E-N., Mueller, B., Gardner, R. J. M., Petit, C. (1997) Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Human Molecular Genetics 6: 2173–2177.CrossRefGoogle ScholarPubMed
Derby, M. L., Esteves, M. S., Breakfield, X. O., Corey, D. P. (1995) Gene delivery to the mammalian and amphibian inner ears using viral vectors. The Molecular Biology of Hearing and Deafness. Bethesda USA. Meeting Abstract No. 152.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
Ernfors, P., Duan, M. L., ElShamy, W. M., Canlon, B. (1996) Protection of auditory neurons from aminoglycoside toxicity by neurotrophin-3. Nature Medicine 2: 463–466.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
Fortnum, H., Davis, A. (1997) Epidemiology of permanent childhood hearing impairment in Trent region. British Journal of Audiology 31: 409–446.CrossRefGoogle ScholarPubMed
Fraser, G. R. (1964) In Research in Deafness in Children. (Fisch, L. ed.) Blackwell: Oxford pp 10–13.Google Scholar
Fraser, G. R. (1976) The Causes of Profound Deafness in Childhood. John Hopkins University Press Baltimore.Google Scholar
Fukaya, H., Yasuta, H., Kanno, H., Watanabe, H., Yamanobe, S., Hori, H., Ohtani, I. (1998) The effect of extract from Ginkgo biloba (Egb 761) on cisplatin-induced ototoxicity. Association for Research in Otolaryngology. St Petersburg Beach Florida. Meeting Abstract no. 533.Google Scholar
Gabaizadeh, R., Staecker, H., Liu, W., Kopke, R., Malgrange, B., Lefebvre, P. P., Van de Water, T. R. (1997) Protection of both auditory hair cells and auditory neurons from cisplatin induced damage. Acta Oto-Laryngologica 117: 232–235.CrossRefGoogle ScholarPubMed
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.CrossRefGoogle ScholarPubMed
Gorlin, R. J., Toriello, H. V., Cohen, M. M. (1995) Hereditary Hearing Loss and its Syndromes. Oxford University Press Oxford.Google Scholar
Hirose, K., Hockenbery, D. M., Rubel, E. W. (1997) Reactive oxygen species in chick hair cells after gentamicin exposure in vitro. Hearing Research 104: 1–14.CrossRefGoogle ScholarPubMed
Jordan, I. K. (1991) Ethical issues in the genetic study of deafness. Annals of the New York Academy of Science 630: 236–239.CrossRefGoogle ScholarPubMed
Keithley, E. M., Ma, C. L., Ryan, A. F. (1998) GDNF protects the cochlea against acoustic trauma. Association for Research in Otolaryngology. St Petersburg Beach Florida. Meeting Abstract No. 540.Google Scholar
Kelley, P. M., Harris, D., Comer, B., Askew, J. W., Smith, S. D., Kimberling, W. J. (1998) Eight novel mutations of connexin 26 (GJB2) in families with non-syndromic recessive hearing loss. Association for Research in Otolaryngology. St Petersburg Beach Florida. Meeting Abstract No. 183.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.CrossRefGoogle ScholarPubMed
Kikuchi, T., Kimura, R. S., Paul, D. L., Adams, J. C. (1995) Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis. Anatomy and Embryology 191: 101–118.CrossRefGoogle ScholarPubMed
Kopke, R., Staecker, H., Lefebvre, P., Malgrange, B., Moonen, G., Ruben, R. J., Van de Water, T. R. (1995) Effect of neurotrophic factors on the inner ear - clinical implications. Acta Oto-Laryngologica 116: 248–252.CrossRefGoogle Scholar
Korver, K. D., Rybak, L. P., Whitworth, C. A., Hughes, L. F., Campbell, K. M. (1998) Round window application of D-methionine provides cisplatin otoprotection. Association for Research in Otolaryngology. St Petersburg Beach Florida. Meeting Abstract No. 536.Google Scholar
Lalwani, A. K., Han, J. J., Walsh, B. J., Zolotukhin, S., Muzyczka, N., Mhatre, A. N. (1997) Green fluorescent protein as a reporter for gene transfer studies in the cochlea. Hearing Research 114: 139–147.CrossRefGoogle ScholarPubMed
Lalwani, A. K., Walsh, B., Reilly, G., Mhatre, A. N., Zolotukhin, S., Muzyczka, N. (1995) Development of in vivo gene therapy for hearing disorders: introduction of adeno-associated virus into the cochlea of guinea pigs. The Molecular Biology of Hearing and Deafness. Bethesda USA. Meeting Abstract No. 154.Google Scholar
Lalwani, A. K., Walsh, B. J., Reilly, P. G., Muzyczka, N., Mhatre, A. N. (1996) Development of in vivo gene therapy for hearing disorders: introduction of adeno-associated virus into the cochlea of the guinea pig. Gene Therapy 3: 588–592.Google ScholarPubMed
Li, X. C., Everett, L. A., Lalwani, A. K., Desmukh, D., Friedman, T. B., Green, E. D., Wilcox, E. R. (1998) A mutation in PDS causes non-syndromic recessive deafness. Nature Genetics 18: 215–217.CrossRefGoogle ScholarPubMed
Liu, W., Staecker, H., Malgrange, B., Lefebvre, P. P., Van de Water, T. R. (1998) Inhibition of ICE protects auditory sensory cells from cisplatin induced apoptosis. Association For Research in Otolaryngology. St Petersburg Beach Florida. Meeting Abstract No. 526.Google 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
Lynch, E. D., Lee, M. K., Morrow, J. E., Welcsh, , León, 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
Mom, T., Droy-Lefaix, M. T., Gilain, L. (1998) Influence of ginkgo biloba extract (Egb 761) on the recovery from ischemia/reperfusion of the gerbil cochlea. Association for Research in Otolaryngology. St Petersburg Beach Florida. Meeting Abstract No. 534.Google Scholar
Morton, N. E. (1991) Genetic epidemiology of hearing impairment. In Genetics of hearing impairment (Ruben, R. J., Van der Water, T. R.Steel, K. P. eds.) Annals of New York Academy of Science 630: 16–31.Google Scholar
Mueller, R. F. (1996) Genetic counselling for hearing impairment. In Genetics and Hearing Impairment. (Martini, A., Read, A., Stephens, D., eds.). Whurr, London pp 255–264.Google Scholar
Newton, V. E. (1985) Aetiology of bilateral sensorineural hearing loss in young children. Journal of Laryngology and Otology (Suppl) 10: 1–57.Google ScholarPubMed
Newton, V. E. (1989) Genetic counselling for isolated hearing loss. Journal of Laryngology and Otology 103: 12–15.CrossRefGoogle ScholarPubMed
Neyroud, N., Tesson, F., Denjoy, I., Leibovici, M., Donger, C., Barhanin, J., Faure, S., Gary, F., Coumel, P., Petit, C., Schwartz, K., Guicheney, K. (1997) A novel mutation in the potassium channel gene KVLQT1 causes Jervell and Lange-Nielsen cardioauditory syndrome. Nature Genetics 15: 186–189.CrossRefGoogle ScholarPubMed
Parving, A. (1983) Epidemiology of hearing loss and aetiological diagnosis of hearing impairment in childhood. International Journal of Pediatric Otorhinolaryngology 5: 151–165.CrossRefGoogle ScholarPubMed
Parving, A. (1984) Aetiological diagnosis in hearing-impaired children-clinical value and application of a modern programme. International Journal of Pediatric Otorhinolaryngology 7: 29–38.CrossRefGoogle Scholar
Parving, A. (1996) Epidemiology of genetic hearing impairment. In Genetics and Hearing Impairment. (Martini, A., Read, A., Stephens, D. eds). Whurr, London, pp 73–81.Google Scholar
Priuska, E. M., Schacht, J. (1995) Formation of free radicals by gentamicin and iron and evidence for an iron gentamicin complex. Biochemical Pharmacology 50: 1749–1752.CrossRefGoogle ScholarPubMed
Raphael, Y., Frisancho, J. C., Roessler, B. J. (1996) Adenovirus-mediated gene transfer into guinea pig cochlear cells in vivo. Neuroscience Letters 207: 137–141.CrossRefGoogle Scholar
Ravi, R., Somani, S. M., Rybak, L. P. (1995) Mechanisms of cisplatin ototoxicity - antioxidant system. Pharmacology and Toxicology 76: 386–394.CrossRefGoogle ScholarPubMed
Rose, S. P., Conneally, P. M., Nance, W. E. (1977) Genetic analysis of childhood deafness. In Childhood Deafness. (Bess, F. H. ed.) Grune and Stratton: New York, pp 19–36.Google Scholar
Schacht, J. (1998) Mechanism and prevention of aminoglyco-side-induced hearing loss. Association for Research in Otolaryngology. St Petersburg Beach Florida. Meeting Abstract No.2.Google Scholar
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.CrossRefGoogle ScholarPubMed
Sha, S. H., Schacht, J. (1998) Antioxidant therapy attenuates gentamicin-induced ototoxicity. Association for Research in Otolaryngology. St Petersburg Beach Florida. Meeting Abstract No. 535.Google Scholar
Shoji, F., Yamasoba, T., Louis, J. C., Magal, E., Dolan, D., Altschuler, R. A., Miller, J. M. (1998) GDNF protects hair cells from noise damage. Association for Research in Otolaryngology, St Petersburg Beach Florida. Meeting Abstract No. 539.Google Scholar
Song, B. B., Anderson, D. J., Schacht, J. (1997) Protection from gentamicin ototoxicity by iron chelators in guinea pig in vivo. Journal of Pharmacology and Experimental Therapeutics 282: 369–377.Google ScholarPubMed
Song, B. B., Schacht, J. (1996) Variable efficacy of radical scavengers and iron chelators to attenuate gentamicin ototoxicity in guinea pig in vivo. Hearing Research 94: 87–93.CrossRefGoogle ScholarPubMed
Staecker, H., Liu, W., Van de Water, T. R. (1998) Use of bcl-2 gene therapy to prevent neomycin induced apoptosis of auditory hair cells. Association for Research in Otolar-yngology. St Petersburg Beach Florida. Meeting Abstract No. 626.Google Scholar
Stopps, , McDonald, F. (1998) Linkage analysis and tracking susceptibility genes. Journal of Laryngology and Otology 112: 323–329.CrossRefGoogle ScholarPubMed
Stupak, H. D., Zur, K. B., Rho, M. B., Van de Water, T. R. (1998) A product of lipid peroxidation, 4-hydroxynonenal, is a mediator of cisplatin ototoxicity. Association for Research in Otolaryngology. St Petersburg Beach Florida. Meeting Abstract No. 525.Google Scholar
Tay, H. L., Shoji, F., Prieskorn, D. M., Park, G., Magal, E., Altschuler, R. A., Miller, J. M. (1998) In vivo protection of auditory hair cells from gentamicin ototoxicity by intra-cochlear administration of GDNF. Association for Research in Otolaryngology. St Petersburg Beach Florida. Meeting Abstract No. 538.Google Scholar
Tuncel, U., Yang, L., Jones, R. O., Clerici, W. J. (1998) Spin tap protection against compound action potential threshold shifts induced by exposure to tetraethyl lead. Association for Research in Otolaryngology. St Petersburg Beach, Florida, Meeting Abstract No. 517.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 KvLQT1: 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
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 POU4FE associated with inherited progressive hearing loss in humans. Science 279: 1950–1954.CrossRefGoogle ScholarPubMed
Van de Water, T., Staecker, H., Appel, S. C., Lefebvre, P. P. (1996) Regeneration of the auditory nerve: The role of neurotrophic factors. In Clinical Aspects of Hearing. (Van de Water, , Popper, A. N., Fay, R. R., eds.). Springer pp 41–85.CrossRefGoogle Scholar
Vincent, C., Kalatzis, V., Abdelhak, S., Chaïb, H., Compain, S., Helias, J., Vaneecloo, F. M., Petit, C. (1997) BOR and BO syndromes are allelic defects of EYA1. European Journal of Molecular Genetics 5: 242–246.Google Scholar
Watanabe, H., Kanno, H., Yamanobe, S., Yasuta, H., Hori, H., Ohtani, I. (1998) The protective effect of deferoxamine mesilate on cisplatin-induced ototoxicity. Association for Research in Otolaryngology. St Petersburg Beach Florida. Meeting Abstract No. 529.Google Scholar
Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, 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 1B. Nature 374: 60–61.CrossRefGoogle ScholarPubMed
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
Whitworth, C. A., Rybak, L. P. (1998) Alpha-lipoic acid as a protective agent against ototoxicity. Association for Research in Otolaryngology. St Petersburg Beach Florida. Meeting Abstract No. 532.Google Scholar
Yamasoba, T., Schacht, J., Miller, J. M. (1998) Protection from noise-induced cochlear damage by iron chelators. Association for Research in Otolaryngology. St Petersburg Beach Florida. Meeting Abstract No. 531.Google Scholar
Zelante, L., Gasparini, P., Estivill, X., Melchionda, S., D'Agruma, L., Govea, N., Milá, M., Della Monica, M., Lutfi, J.Shohat, M., Mansfield, E., Delgrosso, K., Rappa-port, E., Surrey, S., Fortina, P. (1997) Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Human Molecular Genetics 6: 1605–1609.CrossRefGoogle ScholarPubMed