Portal de Periódicos da CAPES

Hereditary Hearing Impairment in Children: An Explosion of New Knowledge Emerging From the Human Genome Project and Mouse Models

2001; Volume: 11; Issue: 2 Linguagem: Inglês

10.1044/hhdc11.2.2

1940-7718

James F. Battey,

Neuroscience of respiration and sleep

No AccessPerspectives on Hearing and Hearing Disorders in ChildhoodEditorial1 Jul 2001Hereditary Hearing Impairment in Children: An Explosion of New Knowledge Emerging From the Human Genome Project and Mouse Models James F. Battey James F. Battey National Institute on Deafness and Other Communication DisordersBethesda, MD Google Scholar More articles by this author https://doi.org/10.1044/hhdc11.2.2 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationTrack Citations ShareFacebookTwitterLinked In References 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 Cohn, E. S.,Kelley, P. M.,Fowler, T. W.,Gorga, M. P.,Lefkowitz, D. M.,Kuehn, H. J.,Schaefer, G. B.,Gobar, L. S.,Hahn, F. J.,Harris, D.J., & Kimberling, W. J. (1999). Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)..Pediatrics, 103, 546–550. Google Scholar Denoyelle, F.,Martin, S.,Weil, D.,Moatti, L.,Chauvin, P.,Garabedian, E.-N, & Petit, C. (1999). Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counseling..Lancet, 353, 1298–1303. Google Scholar Estivill, E.,d e la Fuente, V., & Barraquer, A. (1997). Pharmacological treatment of insomnia in children with neurological disorders.Revista de Neurologia, 25, 1617–20. Google Scholar 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. Google Scholar Erkman, L.,McEvilly, R. J.,Luo, L.,Ryan, A. K.,Hooshmand, F.,O’Connell, 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. Google Scholar Green, E. (1999). The human genome project and its impact on the study of human disease..C. R. Scriver, A. L. BeaudetW. S. SlyD. Valle, B. Childs, & B. Vogelstein (Eds.), Metabolic and molecular bases of inherited disease (8th ed.). New York: McGraw-Hill, (324–331). Google Scholar Griffith, A.,Friedman, T. B. (1999). Making sense out of sound..Nature Genetics, 21, 347–349. Google Scholar Kelsell, D. P.,Dunlop, J.,Steven, H. P.,Lench, N. J.,Liang, J. N.,Parry, G.,Mueller, R. F., & Leigh, I. M. (1997). Connexin 26 mutations in hereditary nonsyndromic sensorineural deafness..Nature, 387, 80–83. Google Scholar Kubisch, C.,Schroeder, B.,Friedrich, T.,Lutnohann, B.,El-Amraoui, A.,Marlin, S.,Petit, C.,& Jentsch, T. (1999). KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.Cell 96, 437–446. Google Scholar 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, 215–218. Google Scholar Liu, A.-Z., Walsh, J.,Mburu, P.,Kendrick-Jones, J.,Jamie, M.,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. Google Scholar Liu, A.-Z., Walsh, J.,Tanagawa, 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. Google 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. Google Scholar Morell, R. J.,Kim, H. J.,Hood, L. J.,Goforth, L.Friderici, K.,Fisher, R.,Van Camp, G.Berlin, C. I.,Oddoux, C.,Ostrer, H.,Keats, B., & Friedman, T. B. (1998). Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. .New England Journal of Medicine, 339, 1500–5. Google Scholar Neyroud, N.,Tesson, F.,Denjoy, I.,Leibovici, M.,Donger, C.,Barhanin, J.,Faure, S.,Gary, F.,Coumel, P., & Petit, C. (1997). A novel mutation in the potassium channel KVLQT1 causes the Jervell and Lang-Nielsen cardioauditory syndrome..Nature Genetics, 15, 186–189. Google Scholar Probst, F. J.,Fridell, R. A.,Raphael, Y.,Saunders, T. L.,Wang, A.,Liang, Y.,Morell, R. J.,Touchman, J. W.,Lyons, R. H.,Noben-Trauth, K.,Friedman, T. B., & Camper, S. A. (1998). Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. Science. 280, 1444–1447. Google Scholar Robertson, N. G.,Khetarpal, U.,Gutierrez-Espelata, G. A.,Bieber, F. R., & Morton, C. C. (1994). Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening..Genomics, 23, 42–50. Google Scholar Robertson, N. G.,Skvorak, A. B.,Yin, Y.,Weremowicz, S.,Johnson, K.,Kovatch, K. A.,Battey, J. F.,Bieber, F. R., & Morton, C. C. (1997). Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for deafness disorder, DFNA9..Genomics, 46, 345–354. Google Scholar Schultze-Bahr, E.,Wang, Q.,Wedekind, H.,Haverkamp, W.,Chen, Q., & Sun, Y. (1997). KCNE1 mutations cause Jervell and Lang-Nielsen syndrome.Nature Genetics, 17, 267–268. Google Scholar Vahava, O.,Morell, R.,Lynch, E. D.,Weiss, S.,Kagan, M.,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 the transcription factor POU4F3 associated with inherited progressive hearing loss in humans..Science, 279, 1950–1953. Google Scholar Van Laer, L.,Huizing, E. H.,Verstreken, M.,van Zuijen, D.,Wauters, J. G.,Bossuyt, P. J.,Van de Heyning, P.,McGuirt, W. T.,Smith, R. J. H.,Willems, P. J.,Legan, P. K.,Richardson, G. P., & Van Camp, G. (1998). Non-syndromic hearing impairment is associated with a mutation in DFNA5..Nature Genetics, 20, 194–197. Google Scholar Verhoeven, K.,Laer, L. V.,Kirschofer, K. , Legan, P. K.,Hughes, D. C.,Schatteman, I.,Verstreken, M.,Van Hauwe, P.,Coucke, P.,Chen, A.,Smith, R. J. H.,Somers, T.,Offeciers, F. E.,Van de Heyning, P.,Richardson, G. P.,Wachtler, F.,Kimberling, W. J., Willems, P. J.,Govaerts, P. J., & Van Camp, G. (1998). Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.Nature Genetics, 19, 60–62. Google Scholar Wang, A.,Liang, Y.,Fridell, R. A.,Probst, F. J.,Wilcox, E. R.,Touchman, J. W.,Morton, C. C.,Morell, R. J., Noben-Trauth, K.,Camper, S. A., & Friedman, T. B. (1998). Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science. 280, 1447–1451. 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.,Wagenar, 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 1B..Nature, 274, 60–61. Google Scholar Weil, D.,Kussel, P.,Blanchard, S.,Levy, G.,Levi-Acobas, F.,Drira, M.,Ayadi, H., & Petit, C. (1997). The autosomal resessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene..Nature Genetics, 16, 191–193. Google Scholar Zheng, Q.-Y., Johnson, K., & Erway, L. (1999). Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses..Hearing Research, 130, 94–107. Google Scholar Additional Resources FiguresReferencesRelatedDetails Volume 11Issue 2July 2001Pages: 2-7 Get Permissions Add to your Mendeley library History Published in issue: Jul 1, 2001 Metrics Topicsasha-topicsleader-topicsasha-article-typesasha-sigsCopyright & Permissions© 2001 American Speech-Language-Hearing AssociationPDF DownloadLoading ...