Zusammenfassung
Störungen des Hörens im Sinn einer (meist progredienten) Schwerhörigkeit oder Taubheit stellen den hßufigsten primßr sensorischen Defekt des Menschen dar. Die Auswirkungen der Taubheit sind sowohl für das betroffene Individuum und sein nßheres Umfeld als auch für die Gesellschaft bedeutend. Der Erkrankte selbst ist in der Kommunikationsfßhigkeit mit seiner Umwelt und somit in seinem sozialen Interaktionsgefüge beeintrßchtigt. Dies ist umso ausgeprßgter, je stßrker die Erkrankung mit einer Einschrßnkung der Sprache ntwicklung oder des verbalen Sprachvermögens einhergeht. Für die Gesellschaft (und hier insbesondere für das Gesundheitswesen) bedeutet Taubheit ein großes volkswirtschaftliches Problem.
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Literatur
Anderson S., Bankier A.T., Barrell B.G. et al. (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457–465
Arden G.B., Fox B. (1979) Increased incidence of abnormal nasal cilia in patients with retinitis pigmentosa. Nature 279:534–536
Avraham K.B., Hasson T., Steel K.P. et al. (1995) The mouse Snell’s waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells. Nat Genet 11:369–375
Avraham K.B., Hasson T., Sobe T. et al. (1997) Characterization of unconventional MY06, the human homologue of the gene responsible for deafness in Snell’s waltzer mice. Hum Mol Genet 6:1225–1231
Ballinger S.W., Shoffner J.M., Hedaya E.V. et al. (1992) Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nat Genet 1:11–15
Barhanin J., Lesage F., Guillemare E., Fink M., Lazdunski M., Romey G. (1996) K(V)LQT1 and 1sK (minK) proteins associate to form the I(Ks) cardiac potassium current. Nature 384:78–80
Barker D.F., Hostikka S.L., Zhou J. et al. (1990) Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248:1224–1227
Barrong S.D., Chaitin M.H., Fliesler S.J., Possin D.E., Jacobson S.G., Milam A.H. (1992) Ultrastructure of connecting cilia in different forms of retinitis pigmentosa. Arch Ophthalmol 110:706–710
Bonne G., Carrier L., Bercovici J. et al. (1995) Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophie cardiomyopathy. Nat Genet 11:438–440
Bonneau D., Raymond F., Kremer C., Klossek J.M., Kaplan J., Patte F. (1993) Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers. J Med Genet 30:253–254
Brunner H.G., Bennekom A. van, Lambermon E.M. et al. (1988) The gene for X-linked progressive mixed deafness with perilymphatie gusher during stapes surgery (DFN3) is linked to PGK. Hum Genet 80:337–340
Bykhovskaya Y., Shohat M., Ehrenman K. et al. (1998) Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation. Am J Med Genet 77:421–426
Capecchi M.R. (1989) Altering the genome by homologous recombination. Science 244:1288–1292
Carrasquillo M.M., Zlotogora J., Barges S., Chakravarti A. (1997) Two different connexin 26 mutations in an inbred kindred segregating non-syndromie recessive deafness: implications for genetic studies in isolated populations. Hum Mol Genet 6:2163–2172
Castrillon D.H., Wasserman S.A. (1994) Diaphanous is required for cytokinesis in Drosophila and shares domains of similarity with the products of the limb deformity gene. Development 120:3367–3377
Charpentier F., Merot J., Riochet D., Le Marec H., Escande D. (1998) Adult KCNE1-knockout mice exhibit a mild cardiac cellular phenotype. Biochem Biophys Res Commun 251:806–810
Chouabe C., Neyroud N., Guicheney P., Lazdunski M., Romey G., Barhanin J. (1997) Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. EMBO J 16:5472–5479
Colville D.J., Savige J. (1997) Alport syndrome. A review of the ocular manifestations. Ophthalmic Genet 18:161–173
Corwin J.T., Oberholtzer J.C. (1997) Fish n’ chicks: model recipes for hair-cell regeneration? Neuron 19:951–954
Coucke P., Van Camp G., Djoyodiharjo B. et al. (1994) Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. N Engl J Med 331:425–431
Crozet F, el Amraoui A., Blanchard S. et al. (1997) Cloning of the genes encoding two murine and human cochlear unconventional type I myosins. Genomics 40:332–341
Davis A.C. (1989) The prevalence of hearing impairment and reported hearing disability among adults in Great Britain. Int J Epidemiol 18:911–917
De Kok Y.J., Maarel S.M. van der, Bitner-Glindziez M et al. (1995) Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 267:685–688
Denoyelle F., Weil D., Maw M.A. et al. (1997) Prelingual deafness: high prevalence of a 30deiG mutation in the connexin 26 gene. Hum Mol Genet 6:2173–2177
Denoyelle F., Lina-Granade G., Plauchu H. et al. (1998) Connexin 26 gene linked to a dominant deafness. Nature 393:319–320
Drici M.D., Arrighi I., Chouabe C. et al. (1998) Involvement of IsK-associated K+ channel in heart rate control of repolarization in a murine engineered model of Jervell and Lange-Nielsen syndrome. Circ Res 83:95–102
El-Amraoui A., Sahly I, Picaud S., Sahel J., Abitbol M., Petit C. (1996) Human Usher 1B/mouse shaker-1: the retinal pheno type discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells. Hum Mol Genet 5:1171–1178
Erkman L., McEvilly R.J., Luo L. et al. (1996) Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and visual system development. Nature 381:603–606
Estivill X., Fortina P., Surrey S. et al. (1998a) Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 351:394–398
Estivill X., Govea N., Barcelo E. et al. (1998 b) Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet 62:27–35
Eudy J.D., Weston M.D., Yao S. et al. (1998) Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science 280:1753–1757
Everett L.A., Glaser B., Beck J.C. et al. (1997) Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 17:411–422
Fields S., Sternglanz R. (1994) The two-hybrid system: an assay for protein-protein interactions. Trends Genet 10:286–292
Fischel-Ghodsian N., Prezant T.R., Fournier P., Stewart I.A., Maw M. (1995) Mitochondrial mutation associated with nonsyndromie deafness. Am J Otolaryngol 16:403–408
Flinter F. (1997) Alport’s syndrome. J Med Genet 34:326–330
Friedmann I., Fraser G.R., Froggatt P. (1966) Pathology of the ear in the cardioauditory syndrome of Jervell and Lange-Nielsen (recessive deafness with electrocardiographic abnormalities). J Laryngol Otol 80:451–470
Friedman T.B., Liang Y., Weber J.L. et al. (1995) A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Nat Genet 9:86–91
Gabriel H.D., Jung D., Butzler C. et al. (1998) Transplacental uptake of glucose is decreased in embryonic lethal connexin26-deficient mice. J Cell Biol 140:1453–1461
Geisterfer-Lowrance A.A., Kass S., Tanigawa G. et al. (1990) A molecular basis for familial hypertrophie cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell 62:999–1006
Gibson F., Walsh J., Mburu P. et al. (1995) A type VII myosin encoded by the mouse deafness gene shaker-1. Nature 374:62–64
Giles R.E., Blanc H., Cann H.M., Wallace D.C. (1980) Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci USA 77:6715–6719
Gillespie P.G., Corey D.P. (1997) Myosin and adaptation by hair cells. Neuron 19:955–958
Gorlin R.J., Toriello H.V., Cohen M.M. (1995) Hereditary hearing loss and its syndromes. Oxford University Press, Oxford
Gravel M., Melancon P., Brakier-Gingras L. (1987) Cross-linking of streptomycin to the 16 S ribosomal RNA of Escherichia coli. Biochemistry 26:6227–6232
Gray M.W. (1992) The endosymbiont hypothesis revisited. Int Rev Cytol 141:233–357
Guan M.X., Fischel-Ghodsian N., Attardi G. (1996) Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12 S rRNA mutation. Hum Mol Genet 5:963–971
Guan M.X., Enriquez J.A., Fischel-Ghodsian N. et al. (1998) The deafness-associated mitochondrial DNA mutation at positIOn 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression. Mol Cell Biol 18:5868–5879
Guilford P., Ayadi H., Blanchard S. et al. (1994) A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum Mol Genet 3:989–993
Gurdon J.B., Lane C.D., Woodland H.R., Marbaix G. (1971) Use of frog eggs and oocytes for the study of messenger RNA and its translation in living cells. Nature 233:177–182
Hackney C.M., Furness D.N. (1995) Mechanotransduction in vertebrate hair cells: structure and function of the stereociliary bundle. Am J Physiol 268:C1–13
Hamasaki K., Rando R.R. (1997) Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness. Biochemistry 36:12323–12328
Hasson T., Heintzelman M.B., Santos-Sacchi J., Corey D.P., Mooseker M.S. (1995) Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type IB. Proc Natl Acad Sci USA 92:9815–9819
Hasson T., Skowron J.F., Gilbert D.J. et al. (1996) Mapping of unconventional myosins in mouse and human. Genomics 36:431–439
Hasson T., Gillespie P.G., Garcia J.A. et al. (1997) Unconventional myosins in inner-ear sensory epithelia. J Cell Biol 137:1287–1307
Heller S., Sheane C.A., Javed Z., Hudspeth A.J. (1998) Molecular markers for cell types of the inner ear and candidate genes for hearing disorders. Proc Natl Acad Sci USA 95:11400–11405
Higashi K. (1989) Unique inheritance of streptomycin-induced deafness. Clin Genet 35:433–436
Hornig H., Woolley P., Luhrmann R. (1987) Decoding at the ribosomal A site: antibiotics, misreading and energy of aminoacyl-tRNA binding. Biochimie 69:803–813
Hoth C.F., Milunsky A., Lipsky N., Sheffer R., Clarren S.K., Baldwin C.T. (1993) Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as weil as Waardenburg syndrome type I (WSI). Am J Hum Genet 52:455–462
Hu D.N., Qui W.Q., Wu B.T. et al. (1991) Genetic aspects of antibiotic induced deafness: mitochondrial inheritance. J Med Genet 28:79–83
Hudspeth A. (1997 a) Mechanical amplification of stimuli by hair cells. Curr Opin Neurobiol 7:480–486
Hudspeth A.J. (1997b) How hearing happens. Neuron 19:947–950
Hughes D.C., Legan P.K., Steel K.P., Richardson G.P. (1998) Mapping of the alpha-tectorin gene (TECTA) to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness. Genomics 48:46–51
Hulander M., Wurst W., Carlsson P., Enerback S. (1998) The winged helix transcription factor FkhlO is required for normal development of the inner ear. Nat Genet 20:374–376
Hunter D.G., Fishman G.A., Mehta R.S., Kretzer F.L. (1986) Abnormal sperm and photoreceptor axonemes in Usher’s syndrome. Arch Ophthalmol 104:385–389
Ikeda K., Morizono T. (1989) Electrochemical profiles for monovalent ions in the stria vascularis: cellular model of ion transport mechanisms. Hear Res 39:279–286
Ingber D.E. (1997) Tensegrity: the architectural basis of cellular mechanotransduction. Annu Rev Physiol 59:575–599
Jacob A.N., Manjunath N.A., Bray-Ward P., Kandpal R.P. (1998) Molecular cloning of a zinc finger gene eZNF from a human inner ear cDNA library, and in situ-expression pattern of its mouse homologue in mouse inner ear. Somat Cell Mol Genet 24:121–129
Jacobs H.T. (1997) Mitochondrial deafness. Ann Med 29:483–491
Janmey P.A. (1998) The cytoskeleton and cell signaling: component localization and mechanical coupling. Physiol Rev 78:763–781
Jervell A., Lange-Nielsen F. (1957) Congenital deaf-mutism, functional heart disease with prolongation of Q-T interval and sudden death. Am Heart J 54:59–68
Johnsonbaugh R.E., Drexler H.G., Light I.J., Sutherland J.M. (1974) Familial occurrence of drug-induced hearing loss. Am J Dis Child 127:245–247
Kalatzis V., Petit C. (1998) The fundamental and medieal impacts of recent progress in research on hereditary hearing loss. Hum Mol Genet 7:1589–1597
Kelley P.M., Harris D.J., Corner B.C. et al. (1998) Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 62:792–799
Kelsell D.P., Dunlop J., Stevens H.P. et al. (1997) Connexin 26 mutations in hereditary non-syndromie sensorineural deafness. Nature 387:80–83
Khetarpal U. (1993) Autosomal dominant sensorineural hearing loss. Further temporal bone findings. Arch Otolaryngol Head Neck Surg 119:106–108
Khetarpal U., Schuknecht H.F., Gacek R.R., Holmes L.B. (1991) Autosomal dominant sensorineural hearing loss. Pedigrees, audiologie findings, and temporal bone findings in two kindreds. Arch Otolaryngol Head Neck Surg 117:1032–1042
Kikuchi T., Kimura R.S., Paul D.L., Adams J.C. (1995) Gap junctions in the rat cochlea: immunohistochemieal and ultrastructural analysis. Anat Embryol (Berl) 191:101–118
Kim H.J., Noben-Trauth K., Moreli R.J. (1998) Tectorin-beta (Tectb) maps to mouse chromosome 19. Genomics 53:419–420
Kimberling W.J., Moller C. (1995) clinical and molecular genetics of Usher syndrome. J Am Acad Audiol 6:63–72
Kubisch C., Schroeder B.C., Friedrieh T. et al. (1999) KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell 96:437–446
Kuhlbrodt K., Schmidt C., Sock E. et al. (1998) Functional analysis of SoxlO mutations found in human Waardenburg-Hirschsprung patients. J Biol Chem 273:23.033–23038
Kumar N.M., Gilula N.B. (1996) The gap junction communication channel. Cell 84:381–388
Kunst H., Marres H., Van Camp G., Cremers C. (1998) Nonsyndromic autosomal dominant sensorineural hearing loss: a new field of research. Clin Otolaryngol 23:9–17
Legan P.K., Rau A., Keen J.N., Riehardson G.P. (1997) The mouse tectorins. Modular matrix proteins of the inner ear homologous to components of the sperm-egg adhesion system. J Biol Chem 272:8791–8801
Leon P.E., 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
Li X.C., Everett L.A., Lalwani A.K. et al. (1998) A mutation in PDS causes non-syndromie recessive deafness. Nat Genet 18:215–217
Liang Y., Wang A., Probst F.J. et al. (1998) Genetic mapping refines DFNB3 to 17p 11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2. Am J Hum Genet 62:904–915
Liu X.Z., Walsh J., Mburu P. et al. (1997 a) Mutations in the myosin VIIA gene cause non-syndromie recessive deafness. Nat Genet 16:188–190
Liu X.Z., Walsh J., Tamagawa Y. et al. (1997b) Autosomal dominant non-syndromie deafness caused by a mutation in the myosin VIIA gene. Nat Genet 17:268–269
Liu X.Z., Hope C., Walsh J. et al. (1998) Mutations in the myosin VIIA gene cause a wide phenotypie spectrum, including atypieal Usher syndrome. Am J Hum Genet 63:909–912
Loizou P.C. (1999) Introduction to cochlear implants. IEEE Eng Med Biol Mag 18:32–42
Lynch E.D., Lee M.K., Morrow J.E., Welcsh P.L., Leon P.E., King M.C. (1997) Nonsyndromie deafness DFNA1 assoeiated with mutation of a human homolog of the Drosophila gene diaphanous. Science 278:1315–1318
Manolis E.N., Yandavi N., Nadol J.B. Jr et al. (1996) A gene for non-syndromie autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13. Hum Mol Genet 5:1047–1050
Manouvrier S., Rotig A., Hannebique G. et al. (1995) Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophie cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness. J Med Genet 32:654–656
Marazita M.L., Ploughman L.M., Rawlings B., Remington E., Arnos K.S., Nance W.E. (1993) Genetic epidemiologieal studies of early-onset deafness in the U.S. school-age population. Am J Med Genet 46:486–491
Marcus D.C., Shen Z. (1994) Slowly activating voltage-dependent K+ conductance is apieal pathway for K+ secretion in vestibular dark cells. Am J Physiol 267:C857–C864
Mermall V., Post P.L., Mooseker M.S. (1998) Unconventional myosins in cell movement, membrane traffic, and signal transduction. Science 279:527–533
Metcalf A.B. (1998) Immunolocalization of myosin Ibeta in the hair cell’s hair bundle. Cell Motil Cytoskeleton 39:159–165
Moazed D., NoHer H.F. (1987) Interaction of antibiotics with functional sites in 16 S ribosomal RNA. Nature 327:389–394
Mochizuki T., Lemmink H.H., Mariyama M. et al. (1994) Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet 8:77–81
Morell R.J., Kim H.J., Hood L.J. et al. (1998) Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromie recessive deafness. N Engl J Med 339:1500–1505
Morton N.E. (1991) Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 630:16–31
Neyroud N., Tesson F., Denjoy I. et al. (1997) A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet 15:186–189
Petit C. (1996) Genes responsible for human hereditary deafness: symphony of a thousand. Nat Genet 14:385–391
Phizicky E.M., Fields S. (1995) Protein-protein interactions: methods for detection and analysis. Microbiol Rev 59:94–123
Pingault V., Bondurand N., Kuhlbrodt K. et al. (1998) SOX1O mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 18:171–173
Prezant T.R., Agapian J.V., Bohlman M.C. et al. (1993) Mitochondrial ribosomal RNA mutation associated with both antibiotie-induced and non-syndromic deafness. Nat Genet 4:289–294
Probst F.J., Fridell R.A., Raphael Y. et al. (1998) Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. Science 280:1444–1447
Reid F.M., Vernham G.A., Jacobs H.T. (1994) A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum Mutat 3:243–247
Riehard G., Smith L.E., Bailey R.A. et al. (1998a) Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nat Genet 20:366–369
Richard G., White T.W., Smith L.E. et al. (1998b) Functional defects of Cx26 resulting from a heterozygous missen se mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genet 103:393–399
Richardson G.P., Russell I.J., Duance V.C., Bailey A.J. (1987) Polypeptide composition of the mammalian tectorial membrane. Hear Res 25:45–60
Rivolta M.N. (1997) Transcription factors in the ear: molecular switches for development and differentiation. Audiol Neurootol 2:36–49
Robertson N.G., Khetarpal U., Gutierrez-Espeleta 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
Robertson N.G., Skvorak A.B., Yin Y. et al. (1997) Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9. Genomics 46:345–354
Robertson N.G., Lu L., Heller S. et al. (1998) Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromie deafness with vestibular dysfunction. Nat Genet 20:299–303
Roden D.M., George A.L. Jr. (1996) The cardiac ion channels: relevance to management of arrhythmias. Annu Rev Med 47:135–148
Ryan A.K., Rosenfeld M.G. (1997) POU domain family values: flexibility, partnerships, and developmental codes. Genes Dev 11:1207–1225
Sahly I., El-Amraoui A., Abitbol M., Petit C., Dufier J.L. (1997) Expression of myosin VIIA during mouse embryogenesis. Anat Embryol (Berl) 196:159–170
Sakagami M., Fukazawa K., Matsunaga T. et al. (1991) Cellular localization of rat Isk protein in the stria vascularis by immunohistochemieal observation. Hear Res 56:168–172
Sanguinetti M.C., Curran M.E., Zou A. et al. (1996) Coassembly of K(V)LQT1 and minK (IsK) pro teins to form cardiac I(Ks) potassium channel. Nature 384:80–83
Schroeder B.C., Kubisch C., Stein V., Jentsch T.J. (1998) Moderate loss of function of cyclie-AMP-modulated KCNQ2/ KCNQ3 K+ channels causes epilepsy. Nature 396:687–690
Schulze-Bahr E., Wang Q., Wedekind H. et al. (1997) KCNEI mutations cause Jervell and Lange-Nielsen syndrome. Nat Genet 17:267–268
Scott D.A., Kraft M.L., Carmi R. et al. (1998) Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromie hearing loss. Hum Mutat 11:387–394
Self T., Mahony M., Fleming J., Walsh J., Brown S.D., 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
Sevior K.B., Hatamochi A., Stewart I.A. et al. (1998) Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness. Am J Med Genet 75:179–185
Shinkawa H., Nadol J.B. Jr (1986) Histopathology of the inner ear in Usher’s syndrome as observed by light and electron microscopy. Ann Otol Rhinol Laryngol 95:313–318
Simon A.M., Goodenough D.A. (1998) Diverse functions of vertebrate gap junctions. Trends Cell Biol 8:477–482
Simon D.K., Johns D.R. (1999) Mitochondrial dis orders: clinical and genetic features. Annu Rev Med 50:111–127
Smith R.J., Berlin C.I., Hejtmancik J.F. et al. (1994) Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet 50:32–38
Spieer S.S., Schulte B.A. (1998) Evidence for a medial K+ recycling pathway from inner hair cells. Hear Res 118:1–12
Splawski I., Tristani-Firouzi M., Lehmann M.H., Sanguinetti M.C., Keating M.T. (1997) Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nat Genet 17:338–340
Staecker H., Van De Water T.R. (1998) Factors controlling hair-cell regeneration/repair in the inner ear. Curr Opin Neurobiol 8:480–487
Steel K.P. (1995) Inherited hearing defects in mice. Annu Rev Genet 29:675–701
Street V.A., McKee-Johnson J.W., Fonseca R.C., Tempel B.L., Noben-Trauth K. (1998) Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice. Nat Genet 19:390–394
Sunose H., Ikeda K., Suzuki M., Takasaka T. (1994) Voltage-activated K channel in luminal membrane of marginal cells of stria vascularis dissected from guinea pig. Hear Res 80:86–92
Swenson K.I., Jordan J.R., Beyer E.C., Paul D.L. (1989) Formation of gap junctions by expression of connexins in Xenopus oocyte pairs. Cell 57:145–155
Takumi T., Ohkubo H., Nakanishi S. (1988) Cloning of a membrane protein that induces a slow voltage-gated potassium current. Science 242:1042–1045
Tamagawa Y., Kitamura K., Ishida T. et al. (1996) A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. Hum Mol Genet 5:849–852
Tassabehji M., Read A.P., Newton V.E. et al. (1992) Waardenburg’s syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355:635–636
Tassabehji M., Newton V.E., Read A.P. (1994) Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet 8:251–255
Thierfelder L., Watkins H., MacRae C. et al. (1994) Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophie cardiomyopathy: a disease of the sarcomere. Cell 77:701–712
Torres M., Giraldez F. (1998) The development of the vertebrate inner ear. Mech Dev 71:5–21
Tsuiki T., Murai S. (1971) Familial incidence of streptomycin hearing loss and hereditary weakness of the cochlea. Audiology 10:315–322
Vahava O., Morell R., Lynch E.O. Waardenburg syndrome type 2 (1998) Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science 279:1950–1954
Van Camp G., Coucke P., Balemans W. et al. (1995) Localization of a gene for non-syndromic hearing loss (OFNA5) to chromosome 7p15. Hum Mol Genet 4:2159–2163
Van Camp G., Coucke P.J., Kunst H. et al. (1997) Linkage analysis of progressive hearing loss in five extended families maps the OFNA2 gene to a 1.25-Mb region on chromosome 1p. Genomics 41:70–74
Van den Ouweland J.M., Lernkes H.H., Ruitenbeek W. et al. (1992) Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type 11 diabetes mellitus and deafness. Nat Genet 1:368–371
Van Laer L., Huizing E.H., Verstreken M. et al. (1998) Nonsyndromic hearing impairment is associated with a mutation in OFNA5. Nat Genet 20:194–197
Verhoeven K., Van Camp G., Govaerts P.J. et al. (1997) A gene for autosomal dominant nonsyndromic hearing loss (OFNAI2) maps to chromosome 11q22-24. Am J Hum Genet 60:1168–1173
Verhoeven K., Van Laer L., Kirschhofer K. et al. (1998) Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet 19:60–62
Vetter O.E., Mann J.R., Wangemann P. et al. (1996) Inner ear defects induced by null mutation of the isk gene. Neuron 17:1251–1264
Vincent G.M. (1998) The molecular genetics of the long QT syndrome: genes causing fainting and sudden death. Annu Rev Med 49:263–274
Wallace O.C. (1993) Mitochondrial diseases: genotype versus phenotype. Trends Genet 9:128–133
Wallace D.C. (1995) Mitochondrial DNA variation in human evolution, degenerative disease, and aging. Am J Hum Genet 57:201–223
Wallis C., Ballo R., Wallis G., Beighton P., Goldblatt J. (1988) X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pOP34. Genomics 3:299–301
Wang Q., Curran M.E., Splawski I. et al. (1996) Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 12:17–23
Wang A., Liang Y., Fridell R.A. et al. (1998) Association of unconventional myosin MY015 mutations with human nonsyndromic deafness DFNB3. Science 280:1447–1451
Wangemann P. (1997) Potassium ion secretion and generation of the endocochlear potential in the stria vascularis. HNO 45:205–209
Wangemann P., Liu J., Marcus O.C. (1995) Ion transport mechanisms responsible for K+ secretion and the transepithelial voltage across marginal cells of stria vascularis in vitro. Hear Res 84:19–29
Wasserman S. (1998) FH proteins as cytoskeletal organizers. Trends Cell Biol 8:111–115
Watanabe N., Madaule P., Reid T. et al. (1997) pl40mDia, a mammalian homolog of Drosophila diaphanous, is a target protein for Rho small GTPase and is a ligand for profilin. EMBO J 16:3044–3056
Watkins H., Conner O., Thierfelder L. et al. (1995) Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet 11:434–437
Weil D., Blanchard S., Kaplan J. et al. (1995) Defective myosin VIIA gene responsible for Usher syndrome type IB. Nature 374:60–61
Weil D., Kussel P., Blanchard S. et al. (1997) The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet 16:191–193
White T.W., Deans M.R., Kelsell O.P., Paul O.L. (1998) Connexin mutations in deafness. Nature 394:630–631
Wollnik B., Guicheney P. (1994) Clinical and genetical aspects of the long QT syndrome. Herz 19:126–132
Wollnik B., Schroeder B.C., Kubisch C., Esperer H.O., Wieacker P., Jentsch T.J. (1997) Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias. Hum Mol Genet 6:1943–1949
Xia J.H., Liu C.Y., Tang B.S. et al. (1998) Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet 20:370–373
Zelante L., Gasparini P., Estivill X. et al. (1997) Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 6:1605–1609
Zeviani M., Muntoni F., Savarese N. et al. (1993) A MERRF/ MELAS overlap syndrome associated with a new point mutation in the mitochondrial ONA tRNA(Lys) gene. Eur J Hum Genet 1:80–87
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Kubisch, C., Bolz, H., Gal, A. (2000). Genetik und molekulare Grundlagen der nicht-syndromalen Taubheit. In: Ganten, D., Ruckpaul, K. (eds) Monogen bedingte Erbkrankheiten 2. Handbuch der Molekularen Medizin, vol 7. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-57044-5_4
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