Genes responsible for human hereditary deafness: symphony of a thousand (original) (raw)

• Denk, W., Holt, J.R., Shepherd, G.M.G. & Corey, D.P. Calcium imaging of single stereocilia in hair cells: localization of transduction channels at both ends of tip links. Neuron 15, 1311–1321 (1995).
  CAS PubMed Google Scholar
• Hudspeth, A.J. & Gillespie, P.G. Pulling springs to tune transduction: adaptation by hair cells. Neuron 12, 1–9 (1994).
  CAS PubMed Google Scholar
• Marazita, M.L. et al. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am. J. Med. Genet. 46, 486–491 (1993).
  CAS PubMed Google Scholar
• Gorlin, R.J., Toriello, H.V. & Cohen, M.M. Hereditary hearing loss and its syndromes. (Oxford University Press, Oxford, 1995).
  Google Scholar
• Chung, C.S., Robison, O.W. & Morton, N.E. A note on deaf mutism. Ann. Hum. Genet. 23, 357–366 (1959).
  CAS PubMed Google Scholar
• Leon, P.E., Raventos, H., Lynch, E., Morrow, J. & King, M.-C. The gene for an inherited form of deafness maps to chromosome 5q31. Proc. Natl. Acad. Sci. USA 89, 5181–5184 (1992).
  CAS PubMed PubMed Central Google Scholar
• Reardon, W. et al. A multipedigree linkage study of X-linked deafness: linkage to Xq13–q21 and evidence for genetic heterogeneity. Genomics 11, 885–894 (1991).
  CAS PubMed Google Scholar
• Guyer, M.S. & Collins, F.S. How is the Human Genome Project doing, and what have we learned so far? Proc. Natl. Acad. Sci. USA 92, 10841–10848 (1995).
  CAS PubMed PubMed Central Google Scholar
• Ballabio, A. The rise and fall of positional cloning? Nature Genet. 3, 277–279 (1993).
  CAS PubMed Google Scholar
• Tassabehji, M. et al. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355, 635–636 (1992).
  Article CAS PubMed Google Scholar
• Tassabehji, M., Newton, V.E. & Read, A.P. Waardenburg syndrome type 2 caused by mutations in the human microphtalmia (MITF) gene. Nature Genet. 8, 251–255 (1994).
  CAS PubMed Google Scholar
• Gibson, F. et al. A type VII myosin encoded by the mouse deafness gene Shaker-1 . Nature 374, 62–64 (1995).
  CAS PubMed Google Scholar
• Weil, D. et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374, 60–61 (1995).
  Article CAS PubMed Google Scholar
• Coyle, B. et al. Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4 . Nature Genet. 12, 421–423 (1996).
  CAS PubMed Google Scholar
• Sheffield, V.C. et al. Pendred syndrome maps to chromosome 7q21–34 and is caused by an intrinsic defect in thyroid iodine organification. Nature Genet. 12, 424–426 (1996).
  CAS PubMed Google Scholar
• Jin, H. et al. A novel X-linked gene, DDR shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. Nature Genet. 14, 177–180 (1996).
  CAS PubMed Google Scholar
• Wilson, P.J. et al. Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. Proc. Natl. Acad. Sci. USA 87, 8531–8535 (1990).
  CAS PubMed PubMed Central Google Scholar
• Scott, H.S. et al. Human alpha-L-iduronidase: cDNA isolation and expression. Proc. Natl. Acad. Sci. USA 88, 9695–9699 (1991).
  CAS PubMed PubMed Central Google Scholar
• Baldwin, C.T., Hoth, C.F., Amos, J.A., da-Silva, E.O. & Milunsky, A. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 355, 637–638 (1992).
  Article CAS PubMed Google Scholar
• Barker, D.F. et al. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248, 1224–1226 (1990).
  CAS PubMed Google Scholar
• Hostikka, S.L. et al. Identification of a distinct type IV collagen α chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome. Proc. Natl. Acad. Sci. USA 87, 1606–1610 (1990).
  CAS PubMed PubMed Central Google Scholar
• Ahmad, N.N. et al. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc. Natl. Acad. Sci. USA 88, 6624–6627 (1991).
  CAS PubMed PubMed Central Google Scholar
• Mochizuki, T. et al. Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome. Nature Genet. 8, 77–81 (1994).
  CAS PubMed Google Scholar
• Edery, P. et al. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nature Genet. 12, 442–444 (1996).
  CAS PubMed Google Scholar
• Hofstra, R.M.W. et al. A homozygous mutation in the endotheiin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nature Genet. 12, 445–447 (1996).
  CAS PubMed Google Scholar
• Tremblay, P., Kessel, M. & Gruss, P. A transgenic neuroanatomical marker identifies cranial neural crest deficiencies associated with the Pax3 mutant Splotch. Dev. Biol. 171, 317–329 (1995).
  CAS PubMed Google Scholar
• Baynash, A.G. et al. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 79, 1277–1285 (1994).
  CAS PubMed Google Scholar
• Lahav, R., Ziller, C., Dupin, E. & Le Douarin, N. Endothelin-3 promotes neural crest cell proliferation and mediates a vast increase in melanocyte number in culture. Proc. Natl. Acad. Sci. USA 93, 3892–3897 (1996).
  CAS PubMed PubMed Central Google Scholar
• Hosoda, K. et al. Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell 79, 1267–1276 (1994).
  CAS PubMed Google Scholar
• Pavan, W.J. & Tilghman, S.M. Piebald lethal (s') acts early to disrupt the development of neural crest-derived melanocytes. Proc. Natl. Acad. Sci. USA 91, 7159–7163 (1994).
  CAS PubMed PubMed Central Google Scholar
• Motohashi, H., Hozawa, K., Oshima, T., Takeuchi, T. & Takasaka, T. Dysgenesis of melanocytes and cochlear dysfunction in mutant microphthalmia (mi) mice. Hearing Res. 80, 10–20 (1994).
  CAS Google Scholar
• Hemesath, T.J. et al. Microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family. Genes Dev. 8, 2770–2780 (1994).
  CAS PubMed Google Scholar
• Morreale de Escobar, G., Obregon, M.J. & Escobar del Rey, F. Fetal and maternal thyroid hormones. Hormone Res. 26, 12–27 (1987).
  CAS PubMed Google Scholar
• Van Middlesworth, L. & Norris, C.H. Audiogenic seizures and cochlear damage in rats after perinatal antithyroid treatment. Endocrinology 106, 1686–1690 (1980).
  CAS PubMed Google Scholar
• O'Malley, B.W., Jr., Li, D. & Turner, D.S. Hearing loss and cochlear abnormalities in the congenital hypothyroid (hyt/hyt) mouse. Hearing Res. 88, 181–189 (1995).
  Google Scholar
• Takeda, K., Balzano, S., Sakurai, A., De Groot, L.J. & Refetoff, S. Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation. J. Clin. Invest. 87, 496–502 (1991).
  CAS PubMed PubMed Central Google Scholar
• Bradley, D.J., Towle, H.C. & Young, W.S.R. Alpha and beta thyroid hormone receptor (TR) gene expression during auditory neurogenesis: evidence for TR isoform-specific transcriptional regulation in vivo . Proc. Natl. Acad. Sci. USA 91, 439–443 (1994).
  CAS PubMed PubMed Central Google Scholar
• Forrest, D., Erway, L.C., Ng, L., Altschuler, R. & Curran, T. Thyroid hormone receptor β is essential for development of auditory function. Nature Genet. 13, 354–357 (1996).
  CAS PubMed Google Scholar
• Steel, K.P. & Smith, R.J.H. Normal hearing in Splotch (Sp/+) the mouse homologue of Waardenburg syndrome type 1. Nature Genet. 2, 75–79 (1992).
  CAS PubMed Google Scholar
• Geissler, E.N., Ryan, M.A. & Housman, D.E. The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene. Cell 55, 185–192 (1988).
  CAS PubMed Google Scholar
• Flanagan, J.G., Chan, D.C. & Leder, P. Transmembrane form of the kit ligand growth factor is determined by alternative splicing and is missing in the Sld mutant. Cell 64, 1025–1035 (1991).
  CAS PubMed Google Scholar
• Bernex, F. et al. Spatial and temporal patterns of _c-Kit_-expressing cells in WlacZ/+ and wlacZ/WlacZ mouse embryos. Development 122, 3023–3033 (1996).
  CAS PubMed Google Scholar
• EI-Amraoui, A. et al. Human Usher IB/mouse shaker-1; the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells. Hum. Mol. Genet. 5 1171–1178 (1996).
  Google Scholar
• Prezant, R.T., Shohat, M., Jabber, L., Pressman, S. & Fischel-Ghodsian, N. Biochemical characterization of a pedigree with mitochondrially inherited deafness. Am. J. Med. Genet. 44, 465–472 (1992).
  CAS PubMed Google Scholar
• Reid, F.M., Vernham, G.A. & Jacobs, H.T. A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum. Mutat. 3, 243–247 (1994).
  CAS PubMed Google Scholar
• Morton, N.E. Genetic epidemiology of hearing impairment. in Genetics of Hearing Impairment 630, 16–31 (The New York Acad. Sci., New York, 1991).
  CAS Google Scholar
• Guilford, P. et al. A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nature Genet. 6, 24–28 (1994).
  CAS PubMed Google Scholar
• Friedman, T.B. et al. A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Nature Genet. 9, 86–91 (1995).
  CAS PubMed Google Scholar
• Fukushima, K. et al. Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q. Hum. Mol. Genet. 4, 1643–1648 (1995).
  CAS PubMed Google Scholar
• Lander, E.S. & Botstein, D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236, 1567–1570 (1987).
  CAS PubMed Google Scholar
• Coucke, P. et al. Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. N. Engl. J. Med. 331, 425–431 (1994).
  CAS PubMed Google Scholar
• de Kok, Y.J.M. et al. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4 . Science 267, 685–688 (1995).
  CAS PubMed Google Scholar
• Steel, K.P. Inherited hearing defects in mice. Annu. Rev. Genet. 29, 675–701 (1995).
  CAS PubMed Google Scholar
• Keats, B.J. et al. The deafness locus (dn) maps to mouse chromosome 19. Mamm. Genome 6, 8–10 (1995).
  CAS PubMed Google Scholar
• Huygen, P.L., van Rijn, P.M., Cremers, C.W. & Theunissen, E.J. The vestibulo-ocular reflex in pupils at a Dutch school for the hearing impaired; findings relating to acquired causes. Int. J. Pediatr. Otorhinolaryngol. 25, 39–47 (1993).
  CAS PubMed Google Scholar
• Nadeau, J.H., Kosowsky, M. & Steel, K.P. Comparative gene mapping, genome duplication, and the genetics of hearing. in Genetics of Hearing Impairment 630, 49–67 (The New York Acad. Sci., New York, 1991).
  Google Scholar
• DeBry, R.W. & Seldin, M.F. Human/mouse homology relationships. Genomics 33, 337–351 (1996).
  CAS PubMed Google Scholar
• Dryja, T.P. & Li, T. Molecular genetics of retinitis pigmentosa. Hum. Mol. Genet. 1739–1743 (1995).
  CAS PubMed Google Scholar
• Fuchs, S. et al. A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. Nature Genet. 10, 360–362 (1995).
  CAS PubMed Google Scholar
• Huang, S.H. et al. Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nature Genet. 11, 468–471 (1995).
  CAS PubMed Google Scholar
• Robertson, N.G., Khetarpal, U., Gutierrez-Espeleta, G.A., Bieber, F.R. & Morton, C.C. Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. Genomics 23, 42–50 (1994).
  CAS PubMed Google Scholar
• Tilney, L.G., Tilney, M.S. & Guild, G.M. Factin bundles in Drosophila bristles. I. Two filament cross-links are involved in bundling. J. Cell Biol. 130, 629–638 (1995).
  CAS PubMed Google Scholar
• Du, H., Gu, G., William, C.M. & Chalfie, M. Extracellular proteins needed for C. elegans mechanosensation. Neuron 16, 183–194 (1996).
  CAS PubMed Google Scholar
• Bargmann, C.I. Molecular mechanisms of mechanosensation? Cell 78, 729–731 (1994).
  CAS PubMed Google Scholar
• Gillespie, P.G., Wagner, M.C. & Hudspeth, A.J. Identification of a 120 kd hair-bundle myosin located near stereociliary tips. Neuron 11, 581–594 (1993).
  CAS PubMed Google Scholar
• Avraham, K.B. et al. The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells. Nature Genet. 11, 369–375 (1995).
  CAS PubMed Google Scholar
• Hasson, T., Heintzelman, M.B., Santos-Sacchi, J., Corey, D.R. & Mooseker, M.S. Expression in cochlea and retina of myosin Vila, the gene product defective in Usher syndrome type 1B. Proc. Natl. Acad. Sci. USA 92, 9815–9819 (1995).
  CAS PubMed PubMed Central Google Scholar
• Weil, D. et al. Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia. Proc. Natl. Acad. Sci. USA 93, 3232–3237 (1996).
  CAS PubMed PubMed Central Google Scholar
• Chaïb, H. et al. A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval. Hum. Mol. Genet. 3, 2219–2222 (1994).
  PubMed Google Scholar
• Guilford, P. et al. A human gene responsible for neurosensory, nonsyndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum. Mol. Genet. 3, 989–993 (1994).
  CAS PubMed Google Scholar
• Tamagawa, Y. et al. 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 (1996).
  CAS PubMed Google Scholar
• Manolis, E.N. et al. A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12–13. Hum. Mol. Genet. 5, 1047–1050 (1996).
  CAS PubMed Google Scholar
• Baldwin, C.T. Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. Hum. Mol. Genet. 4, 1637–1642 (1995).
  CAS PubMed Google Scholar
• Corey, D.P. & Breakefield, X.O. Transcription factors in inner ear development. Proc. Natl. Acad. Sci. USA 91, 433–436 (1994).
  CAS PubMed PubMed Central Google Scholar
• Ernfors, P. Van de Water, T., Loring, J. & Jaenisch, R. Complementary roles of BDNF and NT-3 in vestibular and auditory development. Neuron 14, 1153–1164 (1995).
  CAS PubMed Google Scholar
• Yamashita, H. & Oesterle, E.G. Induction of cell proliferation in mammalian inner-ear sensory epithelia by transforming growth factor alpha and epidermal growth factor. Proc. Natl. Acad. Sci. USA 92, 3152–3155 (1995).
  CAS PubMed PubMed Central Google Scholar
• Colvin, J.S., Bohne, B.A., Harding, G.W., McEwen, D.G. & Ornitz, D.M. Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Nature Genet. 12, 390–397 (1996).
  CAS PubMed Google Scholar
• Markin, V.S. & Hudspeth, A.J. Gating-spring models of mechanoelectrical transduction by hair cells of the internal ear. Annu. Rev. Biophys. Biomol. Struct. 24, 59–83 (1995).
  CAS PubMed Google Scholar
• Fukushima, K. et al. An autosomal recessive non-syndromic form of sensorineural hearing loss maps to 3p-DFNB6. Genome Res. 5, 305–308 (1995).
  CAS PubMed Google Scholar
• Jain, R.K. et al. A human recessive neurosensory nonsyndromic hearing impairment locus is a potential homologue of the murine deafness (dn) locus. Hum. Mol. Genet. 4, 2391–2394 (1995).
  CAS PubMed Google Scholar
• Veske, A. et al. Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. Hum. Mol. Genet. 5, 165–168 (1996).
  CAS PubMed Google Scholar
• Bonné-Tamir, B. et al. Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3. Am. J. Hum. Genet. 58 1254–1259 (1996).
  PubMed PubMed Central Google Scholar
• Chaïb, H. et al. A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22–23. Hum. Mol. Genet. 5, 155–158 (1996).
  PubMed Google Scholar
• Chaïb, H. et al. Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22. Hum. Mol. Genet. 5, 1061–1064 (1996).
  PubMed Google Scholar
• Chen, A.H. et al. Linkage of a gene for dominant non-syndromic deafness to chromosome 19. Hum. Mol. Genet. 4, 1073–1076 (1995).
  CAS PubMed Google Scholar
• Van Camp, G. et al. Localization of a locus for non-syndromic hearing loss (DFNA5) to chromosome 7p. Hum. Mol. Genet. 4, 2159–2163 (1995).
  CAS PubMed Google Scholar
• Lesperance, M.M. et al. A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3. Hum. Mol. Genet. 4, 1967–1972 (1995).
  CAS PubMed Google Scholar
• Fagerheim, T. et al. Identification of a new locus for autosomal dominant nonsyndromic hearing impairment (DFNA7) in a large Norwegian family. Hum. Mol. Genet. 5, 1187–1191 (1996).
  CAS PubMed Google Scholar
• Kirshhofer, K. et al. Localisation of a gene responsible for an autosomal dominant non-syndromic sensorineural hearing loss to chromosome 15. The Molecular Biology of Hearing and Deafness, Bethesda, USA, October 6–8 (1995).
• 0'Neill, M.E. et al. A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6. Hum. Mol. Genet. 5, 853–856 (1996).
  CAS PubMed Google Scholar
• Bach, I. et al. Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3). Am. J. Hum. Genet. 50, 38–44 (1992).
  Google Scholar
• Lalwani, A.K. et al. A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2. Am. J. Hum. Genet. 55, 685–694 (1994).
  CAS PubMed PubMed Central Google Scholar
• del Castillo, I. et al. A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22. Hum. Mol. Genet. 5, 1383–1387 (1996).
  CAS PubMed Google Scholar
• Scott, D.A. et al. An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. Am. J. Hum. Genet. 59, 385–391 (1996).
  CAS PubMed PubMed Central Google Scholar