The molecular genetics of inherited deafness - Current knowledge and recent advances

Journal of Laryngology and Otology

Volumn 112, Issue 5, 1998, Pages 432-437

  Hardisty, Rachel E ^a   Fleming, Jane ^a   Steel, Karen P ^a  

^a MRC INSTITUTE OF HEARING RESEARCH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COCHLEA; HEARING IMPAIRMENT; HUMAN; INNER EAR; MOLECULAR GENETICS; NEUROEPITHELIUM; PHENOTYPE; REVIEW;

EID: 0031844407     PISSN: 00222151     EISSN: None     Source Type: Journal    
DOI: 10.1017/s002221510014071x     Document Type: Review

References (56)

1. 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.
2. 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 IB families from diverse origins. American Journal of Human Genetics 61: 813-821.
3. 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.
4. 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.
5. 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.
6. 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.
7. 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.
8. 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.
9. 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.
10. 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.
11. Deol, M. S. (1964b). The abnormalities in the inner ear in kreisler mice. Journal of Embryology and Experimental Morphology 12: 475-490.
12. Deol, M. S. (1966) Influence of the neural tube on the differentiation of the inner ear in the mammalian embryo. Nature 209: 219-220.
13. 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.
14. 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.
15. 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.
16. 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.
17. Fischel-Ghodsian, N. (1998) Mitochondrial mutations and hearing loss: paradigm for mitichondrial genetics. American Journal of Human Genetics 62: 15-19.
18. 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.
19. 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.
20. 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.
21. 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.
22. 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.
23. 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.
24. Hughes, D. C. (1997) Paradigms and paradoxes: mouse (and human) models of genetic deafness. Audiology and Neurootology 2: 3-11.
25. 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.
26. 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.
27. 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.
28. 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.
29. 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.
30. 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.
31. 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.
32. 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.
33. 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.
34. 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 l (WS1). Journal of Medical Genetics 34: 447-452.
35. Morton, N. E. (1991) Genetic epidemiology of hearing impairment. Annals of the New York Academy of Sciences 630:16-31.
36. 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.
37. Petit, C. (1996) Genes responsible for human hereditary deafness: symphony of a thousand. Nature Genetics 14: 385-391.
38. 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.
39. 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.
40. 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.
41. Steel, K. P. (1995) Inherited hearing defects in mice. Annual Review of Genetics 29: 675-701.
42. Steel, K. P., Bock, G. R. (1983) Hereditary inner ear abnormalities in humans. Archives of Otolaryngology 109: 22-29.
43. Steel, K. P., Brown, S. D. M. (1994) Genes and deafness. Trends in Genetics 10(12): 428-435.
44. 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.
45. Stopps, K., Macdonald, F. (1948) Linkage analysis and the tracking of susceptibility genes. Journal of Laryngology and Otology 112: 323-330.
46. 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.
47. 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.
48. 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.
49. 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., BitnerGlindzicz, 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.
50. Van Camp, G., Willems, P. J., Smith, R. J. H. (1997) Nonsyndromic hearing impairment: unparalleled heterogeneity. American Journal of Human Genetics 60: 758-764.
51. 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.
52. Vetter, D. E., Mann, J. R., Wangemann, F., 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.
53. 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 1B. Nature 374: 60-61.
54. 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.
55. 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.
56. Zlotogora, J., Lerer, I., Bar-Davis, S., Ergaz, Z., Abeliovich, D. (1995) Homozygosity for Waardenburg syndrome. American Journal of Human Genetics 56: 1173-1178.