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Research Article

Genes in the ear: what have we learned over the last years?

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Pages 44-53 | Published online: 12 Oct 2009

References

  • Abdelhak S, Kalatzis V, Heifig R, et al. A human homologue of the Drosophila eyes absent gene under-lies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nature Genet 1997;15:157–64.
  • Ahmad NN, Ala-Kokko L, Knowlton RG, et al. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci USA 1991;88:6624–7.
  • Attie T, Till M, Pelet A, et al. Mutation of the endothelin-receptor B gene in Waardenburg-Hirsch-sprung disease. Hum Mol Genet 1995;4:2407–9.
  • Barker DF, Hostikka SL, Zhou J, et al. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 1990;248:1224–7.
  • Bitner-Gfindzicz M, Lindley ICJ, Rutland P, et al. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nature Genet 2000;26: 56–60.
  • Chen ZY, Hendriks RW, Jobling MA, et al. Isolation and characterization of a candidate gene for Norrie disease. Nature Genet 1992;1:204–8.
  • Cohen M, Gorfin R. Epidemiology, etiology, and genetic patterns. In: Gorfin R, Toriello H, Cohen M, eds. Hereditary hearing loss and its syndromes. Oxford: Oxford University Press, 1995; 9–21.
  • de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, et al. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 1995;267:685— 8.
  • Denoyelle F, Weil D, Maw MA, et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 1997;6:2173–7.
  • Denoyelle F, Lina-Granade G, Plauchu H, et al. Connexin 26 gene linked to a dominant deafness. Nature 1998;393:319–20.
  • Edery P, Attie T, Arniel J, et al. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nature Genet 1996;12: 442–4.
  • Estivill X, Fortina P, Surrey S, et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998;351:394–8.
  • Eudy JD, Weston MD, Yao S, etal. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type Ha. Science 1998;280:1753–7.
  • Everett LA, Glazer B, Beck JC, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nature Genet 1997;17:411–22.
  • Fischel-Ghodsian N. Mitochondrial deafness mutations reviewed. Hum Mutat 1999;13:261–70.
  • Friedman TB, Liang Y, Weber JL, et al. A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Nature Genet 1995;9:86–91.
  • Gasparini P, Rabionet R, Barbujani G, et al. High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur J Hum Genet 2000;8:19–23.
  • Gorlin RJ, Cohen MM, Levin SL. Syndromes of the head and neck. New York, Oxford: Oxford University Press, 1990.
  • Gorlin RJ, Toriello I-IV, Cohen MM. Hereditary hearing loss and its syndromes. Oxford: Oxford University Press, 1995.
  • Grifa A, Wagner CA, D'Ambrosio L, et al. Mutations in GJB6 cause non-syndromic autosomal dominant deafness at DFNA3 locus. Nature Genet 1999;23: 16–8.
  • Hofstra RM, Osinga J, Tan-Sindhunata G, et al. A homozygous mutation in the endothelin-3 gene asso-ciated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syn-drome). Nature Genet 1996;12: 445–7.
  • Hoth CF, Milunsky A, Lipsky N, Sheffer R, Clarren SK, Baldwin CT. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syn-drome (WS-HI) as well as Waardenburg syndrome type I (WS-I). Am J Hum Genet 1993;52:455–62.
  • Jin H, May M, Tranebjaerg L, et al. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. Nature Genet 1996;14:177–80.
  • Kelsell DP, Dunlop J, Stevens HP, et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997;387:80–3.
  • Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W. Mutations in the SALL1 putative trans-cription factor gene cause Townes-Brocks syndrome. Nature Genet 1998;18: 81–3.
  • Kubisch C, Schroeder BC, Friedrich T, etal. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell 1999;96:437–46.
  • Lalwani AK, Goldstein JA, Kelley MJ, Luxford WM, Castelein CM, Mhatre AN. Human non-syndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Am J Hum Genet 2000;67: 1121–8.
  • Lamartine J, Essenfelder GM, Kibar Z, et al. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nature Genet 2000;26:142–4.
  • Lander ES, Botstein D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 1987;236:1567–70.
  • Li XC, Everett LA, Lalwani AK, et al. A mutation in PDS causes non-syndromic recessive deafness. Nature Genet 1998;18:215–17.
  • Liu XZ, Walsh J, Mburu P, et al. Mutations in the myosin \MA gene cause non-syndromic recessive deafness. Nature Genet 1997;16:188–90.
  • Lynch ED, Lee MK, Morrow JE, Welcsh PL, Leon PE, King MC. Non-syndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Science 1997;278:1315–18.
  • Marazita ML, Ploughman LM, Rawlings B, Remington E, Amos KS, Nance WE. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet 1993;46:486–91.
  • The May-Hegglin/Fechtner Syndrome Consortium. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. Nature Genet 2000;26: 103–5.
  • McGuirt WT, Prasad SD, Griffith AJ, et al. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nature Genet 1999;23:413–9.
  • Mochizuki T, Lemmink HH, Mariyama M, et al. Identification of mutations in the alpha 3(W) and alpha 4(W) collagen genes in autosomal recessive Alport syndrome. Nature Genet 1994;8:77–81.
  • Morton NE. Genetic epidemiology of hearing impair-ment. Ann NY Acad Sci 1991;630:16–31.
  • Mustapha M, Weil D, Chardenoux S, et al. An alpha-tectorin gene defect causes a newly identified auto-somal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum Mol Genet 1999;8: 409–12.
  • Newton YE. Aetiology of bilateral sensorineural hearing loss in young children. J Laryngol Otol 1985; 10(Suppl 1):1–57.
  • Neyroud N, Tesson F, Denjoy I, et al. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nature Genet 1997;15:186–9.
  • Pingault V, Bondurand N, Kuhlbrodt K, et al. SOX10 mutations in patients with Waardenburg-Hirschprung disease. Nature Genet 1998;18:171–3.
  • Puffenberger EG, Hosoda K, Washington SS, et al. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung' s disease. Cell 1994;79:1257–66.
  • Richard G, White TW, Smith LE, et al. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genet 1998a;103:393–9.
  • Richard G, Smith LE, Bailey RA, etal. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nature Genet 1998b;20:366–9.
  • Richards AJ, Yates JR, Williams R, etal. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. Hum Mol Genet 1996;5:1339–43.
  • Robertson NG, Lu L, Heller S, et al. Mutations in a novel cochlear gene cause DFNA9, a human non-syndromic deafness with vestibular dysfunction. Nature Genet 1998;20:299–303.
  • Schulze-Bahr E, Wang Q, Wedekind H, Haverkamp W, Chen Q, Sun Y. KCNE1 mutations cause Jervell and Lange-Nielsen syndrome. Nature Genet 1997;17: 267–8.
  • Scott HS, Waltenhofer M, Shibuya K, et al. A novel mutation mechanism, insertion of beta-satellite repeats, in a transmembrane protease gene causes the autosomal Scandinavian Audiology • Vol 30 • Suppl 53 • 2001 recessive deafness DFNB10. Am J Hum Genet 2000;67(Suppl 2):13.
  • Sevior KB, Hatamochi A, Stewart IA, et al. Mitochon-drial A7445G mutation in two pedigrees with palmo-plantar keratoderma and deafness. Am J Med Genet 1998;75:179–85.
  • Tassabehji M, Read AP, Newton VE, et al. Waarden-burg' s syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 1992; 355:635–6.
  • Tassabehji M, Newton VE, Read AP. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nature Genet 1994;8: 251–5.
  • The Treacher Collins Syndrome Collaborative Group. Positional cloning of a gene involved in the pathogen-esis of Treacher Collins syndrome. Nature Genet 1996;12:130–6.
  • Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet 1999;104:188–92.
  • Vahava 0, Morell R, Lynch ED, et al. Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science 1998;279: 1950–4.
  • Van Camp G, Smith RJH. Maternally inherited hearing impairment. Clin Genet 2000;57:409–14.
  • Van Laer L, Huizing EH, Verstreken M, et al. Non-syndromic hearing impairment is associated with a mutation in DFNA5. Nature Genet 1998;20:194–7.
  • Verhoeven K, Van Laer L, Kirschhofer K, et al. Mutations in the human a-tectorin gene cause auto-somal dominant non-syndromic hearing impairment. Nature Genet 1998;19:60–2.
  • Verpy E, Leibovici M, Zwaenepoel I, et al. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nature Genet 2000;26:51–5.
  • Vikkula M, Madman ECM, Lui VCH, et al. Autosomal dominant and recessive osteochondrodysplasias asso-ciated with the COL11A2 locus. Cell 1995;80:431–7.
  • Wang A, Liang Y, Fridell RA, et al. Association of unconventional myosin MY015 mutations with human non-syndromic deafness DFNB3. Science 1998;280: 1447–51.
  • Weil D, Blanchard S, Kaplan J, et al. Defective myosin VITA gene responsible for Usher syndrome type 1B. Nature 1995;374:60–1.
  • Weil D, Kussel P, Blanchard S, et al. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VILA gene. Nature Genet 1997;16:191–3.
  • Wilcox ER, Naz S, Riazuddin S, et al. Mapping DFNB29 and cloning this novel non-syndromic deaf-ness gene on chromosome 21q22. Am J Hum Genet 2000;67(Suppl 2):13.
  • Xia JH, Liu CY, Tang BS, et al. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nature Genet 1998;20:370–3.
  • Yasunaga S, Grafi M, Cohen-Salmon M, et al. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a non-syndromic form of deafness. Nature Genet 1999;21: 363–9.
  • Zhou J, Mochizuki T, Smeets H, et al. Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors. Science 1993;261: 1167–9.

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