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Approaches to Understanding the Molecular Genetics of Hearing and Deafness

  • Chapter
Clinical Aspects of Hearing

Part of the book series: Springer Handbook of Auditory Research ((SHAR,volume 7))

Abstract

Communication provides the means by which the discourses that hold our society together take place. It is communication, or more accurately, the lack of it, that builds barriers among groups of individuals. The fact that a separate culture exists for the deaf underscores the importance of communication in our society. The hearing sense is critical in communication, and further understanding of this process is essential to improving communication skills. This is especially important to those many people who suffer an absence of hearing ability. While lack of hearing is not a life threatening condition in modern society, it is isolating and, if we allow it to be, even dehumanizing. Consequently strong effort must be exerted to understand the causes of hearing loss.

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References

  • Arnvig J (1955) Vestibular function in deafness and severe hardness of hearing. Acta Otolaryngol 45:283–288.

    Article  PubMed  CAS  Google Scholar 

  • Bach I, Brunner HG, Beighton P, Ruvalcaba RHA, Reardon W, Pembrey ME, van der Velde-Visser SD, Bruns GAP, Cremers CWRJ, Cremers FPM, Ropers H-H (1992) Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3). Am J Hum Genet 50:38–44.

    Google Scholar 

  • Bahary N, Pachter JE, Felman R, Leibel RL, Albright K, Cram S, Friedman JM (1992) Molecular mapping of mouse chromosomes 4 and 6: Use of a flow-sorted Robertsonian chromosome. Genomics 13:761–769.

    Article  PubMed  CAS  Google Scholar 

  • Baldwin CT, Hoth CF, Amos JA, da-Silva EO, Milunsky A (1992) An exonic mutation in the HuP2 paired domain gene causes Waardenburg’s syndrome. Nature 355:637–638.

    Article  PubMed  CAS  Google Scholar 

  • Ballinger SW, Shoffner JM, Hedaya EV, Trounce I, Polak MA, Koontz DA, Wallace DC (1992) Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nature Genet 1:11–15.

    Article  PubMed  CAS  Google Scholar 

  • Beisel KW, Kennedy JE, Swaroop A (1993) Identification of cDNAs shared between the inner ear and the retina. Abstracts of the Sixteenth Midwinter Meeting of the Association for Research in Otolaryngology, p138.

    Google Scholar 

  • Berger W, Meindl A, van de Pol TJR, Cremers FPM, Ropers HH, Döerner C, Monaco A, Bergen AAB, Lebo R, Warburg M, Zergollern L, Lorenz B, Gal A, Bleeker-Wagemakers EM, Meitinger T (1992) Isolation of a candidate gene for Norrie disease by positional cloning. Nature Genet 1:199–203.

    Article  PubMed  CAS  Google Scholar 

  • Bird, AP (1986) CpG-rich islands and the function of DNA methylation. Nature 321:209–213.

    Article  PubMed  CAS  Google Scholar 

  • Brown KA, Sutcliffe M, Steel KP, Brown SDM (1992) Close linkage of the olfactory marker protein gene to the mouse deafness mutation shaker-1. Genomics 13:189–193.

    Article  PubMed  CAS  Google Scholar 

  • Brown SDM, Steel KP (1994) Genetic deafness—progress with mouse models. Hum Molec Genet 3:1453–1456.

    PubMed  CAS  Google Scholar 

  • Brownstein Z, Friedlander Y, Peritz E, Cohen T (1991) Estimated number of loci for autosomal recessive severe nerve deafness within the Israeli Jewish population, with implications for genetic counseling. Am J Med Genet 41:306–312.

    Article  PubMed  CAS  Google Scholar 

  • Brunner HG, Smeets B, Smeets D, Nelen M, Cremers CWRJ, Ropers H-H (1991) Molecular genetics of X-linked hearing impairment. In: Ruben RJ, Van De Water TR and Steel KP (eds) Genetics of Hearing Impairment. Ann N Y Acad Sci 630:176–190.

    Google Scholar 

  • Buckler AJ, Chang DD, Graw SL, Brook JD, Haber DA, Sharp PA, Housman DE (1991) Exon Amplification: A strategy to isolate mammalian genes based on RNA splicing. Proc Natl Acad Sci, USA 88:4005–4009.

    Article  PubMed  CAS  Google Scholar 

  • Burke DT, Rossi JM, Leung J, Koos DS, Tilghman S (1991) A mouse genomic library of yeast artificial chromosome clones. Mammal Genome 1:65.

    Article  CAS  Google Scholar 

  • Burri M, Tromvoukis Y, Bopp D, Frigerio G, Noll M (1989) Conservation of the paired domain in metazoans and its structure in three isolated human genes. EMBO J 8:1183–1190.

    PubMed  CAS  Google Scholar 

  • Chabot B, Stephenson DA, Chapman VM, Besmer P, Bernstein A (1988) The proto-oncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus. Nature 335:88–89.

    Article  PubMed  CAS  Google Scholar 

  • Chartier FL, Keer JT, Sutcliffe MJ, Henriques DA, Mileham P, Brown SDM (1992) Construction of a mouse yeast artificial chromosome library in a recombination-deficient strain of yeast. Nature Genet. 1:132–136.

    Article  PubMed  CAS  Google Scholar 

  • Chen Z-Y, Hendriks RW, Jobling MA, Powell JF, Breakefield XO, Sims KB, Craig IW (1992) Isolation and characterisation of a candidate gene for Norrie disease. Nature Genet 1:204–208.

    Article  PubMed  CAS  Google Scholar 

  • Chen Z-Y, Sims KB, Coleman M, Donnai D, Monaco A, Breakefield XO, Davies KE, Craig IW (1992) Characterisation of a YAC containing part or all of the Norrie disease locus. Hum Molec Genet 1:161–164.

    Article  PubMed  CAS  Google Scholar 

  • Chisaka O, Musci TS, Capecchi MR (1992) Developmental defects of the ear, cranial nerves and hindbrain resulting from targeted disruption of the mouse homeobox gene Hox-1.6. Nature 355:516–520.

    Article  PubMed  CAS  Google Scholar 

  • Chung CS, Brown KS (1970) Family studies of early childhood deafness ascertained through the Clarke school for the deaf. Am J Hum Genet 22:630–644.

    PubMed  CAS  Google Scholar 

  • Chung CS, Robison OW, Morton NE (1959) A note on deaf mutism. Ann Hum Genet 23:357–366.

    Article  PubMed  CAS  Google Scholar 

  • Collins FS (1992) Positional cloning: Let’s not call it reverse anymore. Nature Genet 1:3–6.

    Article  PubMed  CAS  Google Scholar 

  • Cremers FPM, van de Pol TJR, Diergaarde PJ, Wieringa B, Nussbaum RL, Schwartz M, Ropers H-H (1989) Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. Genomics 4:41–46.

    Article  PubMed  CAS  Google Scholar 

  • Davis AC (1989) The prevalence of hearing impairment and reported hearing disability among adults in Great Britain. Int J Epidemiol 18:911–917.

    Article  PubMed  CAS  Google Scholar 

  • Davis JG, Burns F, Eberwine JH, Greene MI, Oberholtzer JC (1993) Isolation and analysis of candidate auditory epithelium-specific cDNAs from a Lepomis macrochirus saccular macula cDNA library. Abstracts of the Sixteenth Midwinter Meeting of the Association for Research in Otolaryngology, p89.

    Google Scholar 

  • Deol MS (1956) A gene for uncomplicated deafness in the mouse. J Embryol Exp Morphol 4:190–195.

    Google Scholar 

  • Deol MS (1968) Inherited diseases of the inner ear in man in the light of studies on the mouse. J Med Genet 5:137–158.

    Article  PubMed  CAS  Google Scholar 

  • Deol MS, Kocher W (1958) A new gene for deafness in the mouse. Heredity 12:463–466.

    Article  Google Scholar 

  • Dietrich WF, Miller JC, Steen RG, Merchant M, Damron D, Nahf R, Cross A, Joyce DC, Wessel M, Dredge RD, Marquis A, Stein LD, Goodman N, Page DC, Lander ES (1994) A genetic map of the mouse with 4006 simple sequence length polymorphisms. Nature Genet 7:220–245.

    Article  PubMed  CAS  Google Scholar 

  • Dryja TP, McGee TL, Reichel E, Hahn LB, Cowley GS, Yandell DW, Sandberg MA, Berson EL (1990) A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 343:364–366.

    Article  PubMed  CAS  Google Scholar 

  • Duyk GM, Kim S, Myers RM, Cox DR (1990) Exon trapping: A genetic screen to identify candidate transcribed sequences in cloned mammalian genomic DNA. Proc Natl Acad Sci USA 87:8995–8999.

    Article  PubMed  CAS  Google Scholar 

  • Duyk G, Gastier JM, Mueller RF (1992) Traces of her workings. Nature Genet 2:5–8.

    Article  PubMed  CAS  Google Scholar 

  • Eberwine J, Yeh H, Miyashiro K, Cao Y, Nair S, Finnel M, Zettel M, Coleman P (1992) Analysis of gene expression in live neurons. Proc Natl Acad Sci USA 87:3010–3014.

    Article  Google Scholar 

  • Epstein DJ, Vekemans M, Gros P (1991) Splotch (Sp 2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell 67:767–774.

    Article  Google Scholar 

  • Everberg G (1960) Unilateral total deafness in children. Clinical problems with a special view to vestibular function. Acta Otolaryngol 52:253–269.

    Article  PubMed  CAS  Google Scholar 

  • Foy C, Newton V, Wellesley D, Harris R, Read AP (1990) Assignment of the locus for Waardenburg syndrome type 1 to human chromosome 2q37 and possible homology to the Splotch mouse. Am J Hum Genet 46:1017–1023.

    PubMed  CAS  Google Scholar 

  • Fraser, GR (1976) The Causes of Profound Deafness in Childhood. Baltimore, MD: Johns Hopkins University Press.

    Google Scholar 

  • Geissler EN, Ryan MA, Housman DE (1988) The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene. Cell 55:185–192.

    Article  PubMed  CAS  Google Scholar 

  • Giebel LB, Spritz RA (1991) Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. Proc Natl Acad Sci USA 88:8696–8699.

    Article  PubMed  CAS  Google Scholar 

  • Goulding MD, Chalepakis G, Deutsch U, Erselius JR, Gruss P (1991) Pax-3, a novel murine DNA binding protein expressed during early neurogenesis. EMBO J 10:1135–1147.

    PubMed  CAS  Google Scholar 

  • Greenfield AJ, Brown SDM (1987) Microdissection and microcloning from the proximal region of mouse chromosome 7: Isolation of clones genetically linked to the pudgy locus. Genomics 1:153–158.

    Article  PubMed  CAS  Google Scholar 

  • Guilford P, Ben Arab S, Blanchard S, Levilliers J, Weissenbach J, Belkahia A, Petit C (1994) A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nature Genet 6:24–28.

    Article  PubMed  CAS  Google Scholar 

  • Guilford P, Ayadi H, Blanchard S, Chaib H, Le Pasier D, Weissenbach J, Drira M, Petit C (1994) A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum Molec Genet 3:989–993.

    Article  PubMed  CAS  Google Scholar 

  • Gyapay G, Morissette J, Vignal A, Dib C, Fizames D, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J (1994) The 1993–94 Genethon human genetic linkage map. Nature Genet 7:246–339.

    Article  PubMed  CAS  Google Scholar 

  • Horak FB, Shumway-Cook A, Crowe TK, Black FO (1988) Vestibular function and motor proficiency of children with impaired hearing, or with learning disability and motor impairment. Dev Med Child Neurol 30:64–79.

    Article  PubMed  CAS  Google Scholar 

  • Hultén MA, Honeyman MM, Mayne AJ, Tarlow MJ (1987) Homozygosity in piebald trait. J Med Genet 24:568–571.

    Article  PubMed  Google Scholar 

  • Ishikiriyama S, Tonoki H, Shibuya Y, Chin S, Harada N, Abe K, Nikawa N (1989) Waardenburg syndrome type I in a child with de novo inversion (2) (q35q37.3). Am J Med Genet 33:506–507.

    Article  Google Scholar 

  • Kaga K, Suzuki JI, Marsh RR, Tanaka Y (1981) Influence of labyrinthine hypoactivity on gross motor development of infants. Ann N Y Acad Sci 374:412–420.

    Article  PubMed  CAS  Google Scholar 

  • Kaplan J, Gerber S, Bonneau D, Rozet JM, Delrieu O, Briard ML, Dollfus H, Ghazi I, Dufier JL, Frézal J, Munnich A (1992) A gene for Usher Syndrome Type I (USH1A) maps to chromosome 14q. Genomics 14:979–987.

    Article  PubMed  CAS  Google Scholar 

  • Kimberling WJ, Weston MD, Möller C, Davenport SLH, Shugart YY, Priluck IA, Martini A, Milani M, Smith RJH (1990) Localization of Usher Syndrome Type II to chromosome 1q. Genomics 7:245–249.

    Article  PubMed  CAS  Google Scholar 

  • Kimberling WJ, Möller CG, Davenport S, Priluck IA, Beighton PH, Greenberg J, Reardon W, Weston MD, Kenyon JB, Grunkemeyer JA, Pieke Dahl S, Overbeck LD, Blackwood DJ, Brower AM, Hoover DM, Rowland P, Smith RJH (1992) Linkage of Usher Syndrome Type I gene (USH1B) to the long arm of chromosome 11. Genomics 14:988–994.

    Article  PubMed  CAS  Google Scholar 

  • Konigsmark BW, Gorlin RJ (1976) Genetic and Metabolic Deafness. Philadelphia, PA: W B Saunders and Co.

    Google Scholar 

  • Leon PE, Raventos H, Lynch E, Morrow J, King M-C (1992) The gene for an inherited form of deafness maps to chromosome 5q31. Proc Natl Acad Sci USA 89:5181–5184.

    Article  PubMed  CAS  Google Scholar 

  • Lewis RA, Otterud B, Stauffer D, Lalouel J-M, Leppert M (1990) Mapping recessive ophthalmic diseases: Linkage of the locus for Usher Syndrome Type II to a DNA marker on chromosome 1q. Genomics 7:250–256.

    Article  PubMed  CAS  Google Scholar 

  • 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 66:1105–1119.

    Article  PubMed  CAS  Google Scholar 

  • Mansour S, Goddard JM, Capecchi MR (1993) Mice homozygous for a targeted disruption of the proto-oncogene int-2 have developmental defects in the tail and inner ear. Development 117:13–28.

    PubMed  CAS  Google Scholar 

  • Matsunami N, Smith B, Ballard L, Lensch MW, Robertson M, Albertsen H, Hanemann CO, Müller HW, Bird TD, White R, Chance PF (1992) Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nature Genet. 1:176–179.

    Article  PubMed  CAS  Google Scholar 

  • Meindl A, Berger W, Meitinger T, van de Pol D, Achatz H, Dorner C, Haasemann M, Hellebrand H, Gal A, Cremers F, Ropers H-H (1992) Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. Nature Genet 2:139–143.

    Article  PubMed  CAS  Google Scholar 

  • Morton CC, Bieber FR, Gutierrez-Espeleta GA, Khetarpal U, Robertson NG (1992) Cloning genes involved in hearing from a human fetal cochlear cDNA library. Proceedings of the Meeting on The Molecular Biology of Hearing and Deafness, 86.

    Google Scholar 

  • Morton NE (1991) Genetic epidemiology of hearing impairment. In: Ruben RJ, Van De Water T R and Steel K P (eds) Genetics of Hearing Impairment. Ann N Y Acad Sci 630:16–31.

    Google Scholar 

  • Nadeau JH, Kosowsky M, Steel KP (1991) Comparative gene mapping, genome duplication, and the genetics of hearing. In: Ruben RJ, Van De Water TR and Steel KP (eds) Genetics of Hearing Impairment. Ann N Y Acad Sci 630:49–67.

    Google Scholar 

  • Oberholtzer JC, Cohen EL, Davis JG, Greene MI (1993) Use of a chick cochlea cDNA library for the identification and characterization of peripheral auditory tissue transcripts. Abstracts of the Sixteenth Midwinter Meeting of the Association for Research in Otolaryngology, p88.

    Google Scholar 

  • O’Brien SJ, Womack JE, Lyons LA, Moore KJ, Jenkins NA, Copeland NG (1993) Anchored reference loci for comparative genome mapping in mammals. Nature Genet 3:103–112.

    Article  PubMed  Google Scholar 

  • Ott J (1991) Analysis of Human Genetic Linkage. Baltimore, MD: Johns Hopkins University Press.

    Google Scholar 

  • Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Suter U (1992) The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nature Genet 1:159–165.

    Article  PubMed  CAS  Google Scholar 

  • Pieke Dahl S, Weston MD, Kimberling WJ, Gorin MB, Shugart YY, Kenyon JB (1991) Possible genetic heterogeneity of Usher syndrome type 2: a family unlinked to chromosome 1q markers. Am J Hum Genet (suppl) 49:A1077.

    Google Scholar 

  • Represa J, León Y, Miner C, Giraldez F (1991) The int-2 proto-oncogene is responsible for induction of the inner ear. Nature 353:561–563.

    Article  PubMed  CAS  Google Scholar 

  • Rinchik EM, Johnson DK, Margolis FL, Jackson IJ, Russell LB, Carpenter DA (1991) Reverse genetics in the mouse and its application to the study of deafness. In: Ruben RJ, Van De Water TR, Steel KP (eds) Genetics of Hearing Impairment. Ann N Y Acad Sci 630:80–92.

    Google Scholar 

  • Rosenblut BR, Goldstein R, Landau WM (1960) Vestibular responses of some deaf and aphasic children. Ann Otol Rhinol Laryngol 69:747–755.

    PubMed  CAS  Google Scholar 

  • Rötig A, Cormier V, Chatelain P, Francois R, Saudubray JM, Rustin P, Munnich A (1993) Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). J Clin Invest 91:1095–1098.

    Article  PubMed  Google Scholar 

  • Ryan AF, Housley GD, Harris JP (1993) Isolation of gene sequences from the inner ear using PCR and cDNA library screening. Abstracts of the Sixteenth Midwinter Research Meeting of the Association for Research in Otolaryngology, p88.

    Google Scholar 

  • Sewell WF, Mroz EA (1990) Purification of a low-molecular-weight excitatory substance from the inner ears of goldfish. Hearing Res 50:127–138.

    Article  CAS  Google Scholar 

  • Smith RJH, Lee EC, Kimberling WJ, Daiger SP, Pelias MZ, Keats BJB, Jay M, Bird A, Reardon W, Guest M, Ayyagari R, Hejtmancik JF (1992) Localization of two genes for Usher Syndrome Type I to chromosome 11. Genomics 14:995–1002.

    Article  PubMed  CAS  Google Scholar 

  • Smith RJH, Berlin CI, Hejtmancik JF, Keats BJB, Kimberling WJ, Lewis RA, Möller CG, Pelias MZ, Tranebjaerg L (1994) Clinical diagnosis of the Usher syndromes. Am J Med Genet 50:32–38.

    Article  PubMed  CAS  Google Scholar 

  • Solc CK, Meyers V, Duyk GM, Corey DP (1993) Cloning and molecular characterization of myosins from bullfrog macula sensory epithelium. Abstracts of the Sixteenth Midwinter Research Meeting of the Association for Research in Otolaryngology, p21.

    Google Scholar 

  • Spritz RA, Giebel LB, Holmes SA (1992) Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. Am J Hum Genet 50:261–269.

    PubMed  CAS  Google Scholar 

  • Steel KP (1991) Similarities between mice and humans with hereditary deafness. In: Ruben RJ, Van De Water TR and Steel KP (eds) Genetics of Hearing Impairment. Ann N Y Acad Sci 630:68–79.

    Google Scholar 

  • Steel KP, Bock GR (1980) The nature of inherited deafness in deafness mice. Nature 288:159–161.

    Article  PubMed  CAS  Google Scholar 

  • Steel KP, Brown SDM (1994) Genes for deafness. Trends in Genet 10:428–435.

    Article  CAS  Google Scholar 

  • Steel KP, Smith RJH (1992) Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1. Nature Genet 2:75–79.

    Article  PubMed  CAS  Google Scholar 

  • Steel KP, Davidson DR, Jackson IJ (1992) TRP-2/DT, a new early melanoblast marker, shows that steel growth factor (c-kit ligand) is a survival factor. Development 115:1111–1119.

    PubMed  CAS  Google Scholar 

  • Stevenson AC, Cheeseman EA (1956) Hereditary deaf mutism, with particular reference to Northern Ireland. Ann Hum Genet 20:177–231.

    Article  PubMed  CAS  Google Scholar 

  • Suter U, Welcher AA, Özcelik T, Snipes GJ, Kosaras B, Francke U, Billings-Gagliardi S, Sidman RL, Shooter EM (1992) Trembler mouse carries a point mutation in a myelin gene. Nature 356:241–244.

    Article  PubMed  CAS  Google Scholar 

  • Swaroop A, Xu J, Agarwal N, Weissman SM (1991) A simple and efficient cDNA library subtraction procedure: isolation of human retina-specific cDNA clones. Nucl Acids Res 19:1954.

    Article  PubMed  CAS  Google Scholar 

  • Tassabehji M, Read AP, Newton VE, Harris R, Balling R, Gruss P, Strachan T (1992) Waardenburg’s syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355:635–636.

    Article  PubMed  CAS  Google Scholar 

  • Tassabehji M, Read AP, Newton VE, Patton M, Gruss P, Harris R, Strachan T (1993) Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. Nature Genet 3:26–30.

    Article  PubMed  CAS  Google Scholar 

  • Timmerman V, Nelis E, Van Hul W, Nieuwenhuijsen BW, Chen KL, Wang S, Ben Othman K, Cullen B, Leach RJ, Hanemann CO, De Jonghe P, Raeymaekers P, van Ommen G-JB, Martin J-J, Müller HW, Vance JM, Fischbeck KH, Van Broeckhoven C (1992) The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nature Genet 1:171–175.

    Article  PubMed  CAS  Google Scholar 

  • Travis GH, Hepler JE (1993) A medley of retinal dystrophies. Nature Genet 3:191–192.

    Article  PubMed  CAS  Google Scholar 

  • Valentijn LJ, Bolhuis PA, Zorn I, Hoogendijk JE, van den Bosch N, Hensels GW, Stanton VP, Houseman DE, Fischbeck KH, Ross DA, Nicholson GA, Meershoek EJ, Dauwerse HG, van Ommen G-JB, Baas F (1992) The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nature Genet 1:166–170.

    Article  PubMed  CAS  Google Scholar 

  • Wilcox ER, Fex J (1992) Construction of a cDNA library from microdissected guinea pig organ of Corti. Hearing Res 62:124–126.

    Article  CAS  Google Scholar 

  • Wilcox ER, Gruber C, Fex J (1993) Construction of a guinea pig ampulla cDNA library and cloning of cDNA sequences common to the ampulla and organ of Corti. Abstracts of the Sixteenth Midwinter Meeting of the Association for Research in Otolaryngology, p146.

    Google Scholar 

  • Zdarsky E, Favor J, Jackson IJ (1990) The molecular basis of brown, an old mouse mutation, and of an induced revertant to wild type. Genetics 126:443–449.

    PubMed  CAS  Google Scholar 

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Authors
  1. Karen P. Steel
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  2. William Kimberling
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Editor information

Editors and Affiliations

  1. Department of Otolaryngology, Albert Einstein College of Medicine, Bronx, NY, 10461, USA

    Thomas R. Van De Water

  2. Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY, 10461, USA

    Thomas R. Van De Water

  3. Department of Zoology, University of Maryland, College Park, MD, 20742-9566, USA

    Arthur N. Popper

  4. Department of Psychology, Loyola University of Chicago, Chicago, IL, 60626, USA

    Richard R. Fay

  5. Parmly Hearing Institute, Loyola University of Chicago, Chicago, IL, 60626, USA

    Richard R. Fay

  6. Department of Human Physiology and Pathophysiology, University of Liege, Liege, Belgium

    Thomas R. Van De Water

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© 1996 Springer-Verlag New York, Inc.

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Steel, K.P., Kimberling, W. (1996). Approaches to Understanding the Molecular Genetics of Hearing and Deafness. In: Van De Water, T.R., Popper, A.N., Fay, R.R. (eds) Clinical Aspects of Hearing. Springer Handbook of Auditory Research, vol 7. Springer, New York, NY. https://doi.org/10.1007/978-1-4612-4068-6_2

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  • DOI: https://doi.org/10.1007/978-1-4612-4068-6_2

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