Autosomal Dominant Nonsyndromic Hearing Impairment: an Overview

REFERENCES

• Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, BitnerGlindzicz M, Francis M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J, Petit C. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nature Genetics 1997; 15: 157–64.
   PubMed Web of Science ®Google Scholar
• Avraham KB, Hasson T, Steel KP, Kingsley DM, Russell LB, Mooseker MS, Copeland NG, Jenkins NA. The mouse Snell’s waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells. Nature Genetics 1995; 11: 369–75.
   PubMed Web of Science ®Google Scholar
• Bespalova IN, Van Camp G, Bom SJH, Brown DJ, Cryns K, DeWan AT, Erson AE, Flothmann K, Kunst HPM, Kurnool P, Sivakumaran TA, Cremers CWRJ, Leal SM, Burmeister M, Lesperance MM. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Human Molecular Genetics 2001; 10: 2501—8.
   PubMed Web of Science ®Google Scholar
• BoÄnsch D, Scheer Neumann, P C, Lang-Roth R, Seifert E, Storch P, Weiller C, Lamprecht-Dinnesen A, Deufel T. A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus. European Journal of Human Genetics 2001; 9: 165—70.
   PubMed Web of Science ®Google Scholar
• Brown MR, Tomek MS, Van Laer L, Smith S, Kenyon JB, Van Camp G, Smith RJH. A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p. American Journal of Human Genetics 1997; 61: 924—7.
   PubMed Web of Science ®Google Scholar
• Chaib H, Lina-Granade G, Guilford P, Plauchu H, Levilliers J, Morgon A, Petit C. A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval. Human Molecular Genetics 1994; 3: 2219—22.
   PubMed Web of Science ®Google Scholar
• Chen AH, Ni L, Fukushima K, Marietta J, O’Neill M, Coucke P, Willems PJ, Smith RJH. Linkage of a gene for dominant nonsyndromic deafness to chromosome 19. Human Molecular Genetics 1995; 4: 1073—6.
   PubMed Web of Science ®Google Scholar
• Coucke P, Van Camp G, Djoyodiharjo B, Smith SD, Frants RR, Padberg GW, Darby JK, Huizing EH, Cremers CWRJ, Kimberling WJ, Oostra BA, Van de Heyning P, Willems PJ. Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. New England Journal of Medicine 1994; 331: 425—31.
   PubMed Web of Science ®Google Scholar
• de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, Pembrey ME, Ropers HH, Cremers FP. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 1995; 267: 685—8.
   PubMed Web of Science ®Google Scholar
• Denoyelle F, Lina-Granade G, Plauchu H, Bruzzone R, Chaib H, Levi-Acobas F, Weil D, Petit C. Connexin 26 gene linked to a dominant deafness. Nature 1998; 393: 319—20.
   PubMed Web of Science ®Google Scholar
• Fagerheim T, Nilssen O, Raeymaekers P, Brox V, Moum T, Elverland HH, Teig E, Omland HH, Fostad GK, Tranebjaerg L. Identification of a new locus for autosomal dominant nonsyndromic hearing impairment (DFNA7) in a large Norwegian family. Human Molecular Genetics 1996; 5: 1187—91.
   PubMed Web of Science ®Google Scholar
• Fransen E, Verstreken M, Verhagen WIM, Wuyts FL, Huygen PLM, D’Haese P, Robertson NG, Morton CC, McGuirt WT, Smith RJH, Declau F, Van de Heyning PH, Van Camp G. High prevalence of symptoms of Meniere’s disease in three families with a mutation in the COCH gene. Human Molecular Genetics 1999; 8: 1425—9.
   PubMed Web of Science ®Google Scholar
• Fukushima K, Kasai N, Ueki Y, Nishizaki K, Sugata K, Hirakawa S, Masuda A, Gunduz M, Ninomiya Y, Masuda Y, Sato M, McGuirt WT, Coucke P, Van Camp G, Smith RJH. A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3. American Journal of Human Genetics 1999; 65: 141—50.
   Google Scholar
• Greene CC, McMillan PM, Barker SE, Kurnool P, Lomax MI, Burmeister M, Lesperance MM. DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24. American Journal of Human Genetics 2001; 68: 254—60.
   PubMed Web of Science ®Google Scholar
• Grifa A, Wagner CA, D’Ambrosio L, Melchionda S, Bernardi F, Lopez-Bigas N, Rabionet R, Arbones M, Monica MD, Estivill X, Zelante L, Lang F, Gasparini P. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nature Genetics 1999; 23: 16—8.
   PubMed Web of Science ®Google Scholar
• Hafner FM, Salam AA, Linder TE, Balmer D, Baumer A, Schinzel AA, Spillmann T, Leal SM. A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred. American Journal of Human Genetics 2000; 66: 1437—42.
   PubMed Web of Science ®Google Scholar
• Ikezono T, Omori A, Ichinose S, Pawankar R, Watanabe A, Yagi T. Identification of the protein product of the Coch gene (hereditary deafness gene) as the major component of bovine inner ear protein. Biochimica et Biophysica Acta 2001; 1535: 258—65.
   PubMed Web of Science ®Google Scholar
• Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal M, Mueckler M, Marshall H, Donis K, Crock P, Rogers D, Mikuni M, Kumashiro H, Higashi K, Sobue G, Oka Y, Permutt MA. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nature Genetics 1998; 20: 143—8.
   PubMed Web of Science ®Google Scholar
• Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997; 387: 80—3.
   PubMed Web of Science ®Google Scholar
• Kubisch C, Schroeder BC, Friedrich T, LuÄtjohann B, ElAmraoui A, Marlin S, Petit C, Jentsch TJ. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell 1999; 96: 437—46.
   PubMed Web of Science ®Google Scholar
• Kunst H, Marres H, Huygen P, van Duijnhoven G, Krebsova A, van der Velde S, Reis A, Cremers F, Cremers C. Nonsyndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21). Clinical Otolaryngology 2000; 25: 45—54.
   PubMed Web of Science ®Google Scholar
• Kurima K, Szymko Y, Rudy S, Morell RJ, Friedman TB, Griffith AJ. Genetic map localization of DFNA34 and DFNA36, two autosomal dominant nonsyndromic deafness loci. American Journal of Human Genetics 2000; 67 suppl 2: 300.
   Google Scholar
• Lalwani AK, Walsh BJ, Reilly PG, Muzyczka N, Mhatre AN. Development of in vivo gene therapy for hearing disorders: introduction of adeno-associated virus into the cochlea of the guinea pig. Gene Therapy 1996; 3: 588—92.
   PubMed Web of Science ®Google Scholar
• Lalwani AK, Walsh B, Reilly P, Carvalho G, Zolotukhin S, Muzyczka N, Mhatre A. Long-term in vivo cochlear transgene expression mediated by recombinant adeno-associated virus. Gene Therapy 1998; 5: 277—81.
   PubMed Web of Science ®Google Scholar
• Lalwani AK, Luxford WM, Mhatre AN, Attaie A, Wilcox ER, Castelein CM. A new locus for nonsyndromic hereditary hearing impairment, DFNA17, maps to chromosome 22 and represents a gene for cochleosaccular degeneration. American Journal of Human Genetics 1999; 64: 318—23.
   PubMed Web of Science ®Google Scholar
• Lalwani AK, Goldstein JA, Kelley MJ, Luxford WM, Castelein CM, Mhatre AN. Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. American Journal of Human Genetics 2000; 67: 1121—8.
   PubMed Web of Science ®Google Scholar
• Leon PE, Raventos H, Lynch E, Morrow J, King MC. The gene for an inherited form of deafness maps to chromosome 5q31. Proceedings of the National Academy of Science of the USA 1992; 89: 5181—4.
   PubMed Web of Science ®Google Scholar
• Lesperance MM, Hall JW, Bess FH, Fukushima K, Jain PK, Ploplis B, San Agustin TB, Skarka H, Smith RJH, Wills M, Wilcox ER. A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3. Human Molecular Genetics 1995; 4: 1967—72.
   Google Scholar
• Li XC, Saal HM, Friedman TB, Friedman RA. A new gene for autosomal dominant nonsyndromic sensorineural hearing loss (DFNA32) maps to 11p15. American Journal of Human Genetics 2000; 67 suppl 2: 312.
   Google Scholar
• Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJ, Steel KP, Brown SD. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nature Genetics 1997a; 16: 188—90.
   PubMed Web of Science ®Google Scholar
• Liu XZ, Walsh J, Tamagawa Y, Kitamura K, Nishizawa M, Steel KP, Brown SD. Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nature Genetics 1997b; 17: 268—9.
   PubMed Web of Science ®Google Scholar
• Liu XZ, Blanton SH, Liang CY, Cai MW, Pandya A, Landa B, Mummalanni S, Li KS, Du LL, Qin XN, Liu YF, Nance WE. A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter. American Journal of Human Genetics 2001; 69 suppl: 495.
   Google Scholar
• Lynch ED, Lee MK, Morrow JE, Welcsh PL, Leon PE, King MC. Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Science 1997; 278: 1315—8.
   PubMed Web of Science ®Google Scholar
• Maestrini E, Korge BP, Ocana-Sierra J, Calzolari E, Cambiaghi S, Scudder PM, Hovnanian A, Monaco AP, Munro CS. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel’s syndrome) in three unrelated families. Human Molecular Genetics 1999; 8: 1237—43.
   PubMed Web of Science ®Google Scholar
• Mangino M, Flex E, Capon F, Sangiuolo F, Carraro E, Gualandi F, Mazzoli M, Martini A, Novelli G, Dallapiccola B. Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26. European Journal of Human Genetics 2001; 9: 667—71.
   PubMed Web of Science ®Google Scholar
• Manolis EN, Yandavi N, Nadol JB, Eavey RD, McKenna M, Rosenbaum S, Khetarpal U, Halpin C, Merchant SN, Duyk GM, MacRae C, Seidman CE, Seidman JG. A gene for nonsyndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13. Human Molecular Genetics 1996; 5: 1047—50.
   PubMed Web of Science ®Google Scholar
• May-Hegglin/Fechtner Syndrome Consortium. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. Nature Genetics 2000; 26: 103—5.
   PubMed Web of Science ®Google Scholar
• McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CWRJ, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJH. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nature Genetics 1999; 23: 413—9.
   PubMed Web of Science ®Google Scholar
• Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P. MYO6, the human homologue of the gene responsible for deafness in Snell’s waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. American Journal of Human Genetics 2001; 69: 635—40.
   PubMed Web of Science ®Google Scholar
• Morell RJ, Friderici KH, Wei S, Elfenbein JL, Friedman TB, Fisher RA. A new locus for late-onset, progressive, hereditary hearing loss DFNA20 maps to 17q25. Genomics 2000; 63: 1—6.
   PubMed Web of Science ®Google Scholar
• Morton NE. Genetic epidemiology of hearing impairment. Annals of the New York Academy of Science 1991; 630: 16—31.
   PubMed Web of Science ®Google Scholar
• Mustapha M, Weil D, Chardenoux S, Elias S, El-Zir E, Beckmann JS, Loiselet J, Petit C. An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Human Molecular Genetics 1999; 8: 409—12.
   PubMed Web of Science ®Google Scholar
• Neyroud N, Tesson F, Denjoy I, Leibovici M, Donger C, Barhanin J, Faure S, Gary F, Coumel P, Petit C, Schwartz K, Guicheney P. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nature Genetics 1997; 15: 186–9.
   PubMed Web of Science ®Google Scholar
• O’Neill ME, Marietta J, Nishimura D, Wayne S, Van Camp G, Van Laer L, Negrini C, Wilcox ER, Chen A, Fukushima K, Ni L, Sheffield VC, Smith RJH. A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6. Human Molecular Genetics 1996; 5: 853–6.
   PubMed Web of Science ®Google Scholar
• Pihlajamaa T, Prockop DJ, Faber J, Winterpacht A, Zabel B, Giedion A, Wiesbauer P, Spranger J, Ala-Kokko L. Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweym ++ ller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). American Journal of Medical Genetics 1998; 80: (1998): 115–20.
   PubMed Web of Science ®Google Scholar
• Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL, Bale SJ. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Human Genetics 1998; 103: 393–9.
   PubMed Web of Science ®Google Scholar
• Robertson NG, Lu L, Heller S, Merchant SN, Eavey RD, McKenna M, Nadol JB, Miyamoto RT, Linthicum FH, Neto JFL, Hudspeth AJ, Seidman CE, Morton CC, Seidman JG. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. Nature Genetics 1998; 20: 299–303.
   PubMed Web of Science ®Google Scholar
• Salam AA, Hafner FM, Linder TE, Spillmann T, Schinzel AA, Leal SM. A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred. American Journal of Human Genetics 2000; 66: 1984–8.
   PubMed Web of Science ®Google Scholar
• Schulze-Bahr E, Wang Q, Wedekind H, Haverkamp W, Chen Q, Sun Y. KCNE1 mutations cause Jervell and Lange-Nielsen syndrome. Nature Genetics 1997; 17: 267–8.
   PubMed Web of Science ®Google Scholar
• Talebizadeh Z, Kenyon JB, Askew JW, Smith SD. A new locus for dominant progressive hearing loss DFNA37 mapped to chromosome 1p21. American Journal of Human Genetics 2000; 67 suppl 2: 314.
   Google Scholar
• Tamagawa Y, Kitamura K, Ishida T, Ishikawa K, Tanaka H, Tsuji S, Nishizawa M. A gene for a dominant form of nonsyndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. Human Molecular Genetics 1996; 5: 849–52.
   PubMed Web of Science ®Google Scholar
• Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, Lee MK, Skvorak AB, Morton CC, Blumenfeld A, Frydman M, Friedman TB, King MC, Avraham KB. Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science 1998; 279: 1950–4.
   PubMed Web of Science ®Google Scholar
• Van Camp G, Coucke P, Balemans W, van Velzen D, van de Bilt C, Van Laer L, Smith RJH, Fukushima K, Padberg GW, Frants RR, Van de Heyning P, Smith SD, Huizing EH, Willems PJ. Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15. Human Molecular Genetics 1995; 4: 2159–63.
   PubMed Web of Science ®Google Scholar
• Van Camp G, Kunst H, Flothmann K, McGuirt W, Wauters J, Marres H, Verstreken M, Bespalova IN, Burmeister M, Van de Heyning PH, Smith RJH, Willems PJ, Cremers CW, Lesperance MM. A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus. Journal of Medical Genetics 1999; 36: 532–6.
   Google Scholar
• Van Hauwe P, Coucke PJ, Declau F, Kunst H, Ensink RJ, Marres HA, Cremers CWRJ, Djelantik B, Smith SD, Kelley P, Van de Heyning PH, Van Camp G. Deafness linked to DFNA2: one locus but how many genes? Nature Genetics 1999; 21: 263.
   PubMed Web of Science ®Google Scholar
• Van Laer L, Huizing EH, Verstreken M, van Zuijlen D, Wauters JG, BossuytPJ, Van de Heyning P, McGuirt WT, Smith RJH, Willems PJ, Legan PK, Richardson GP, Van Camp G. Nonsyndromic hearing impairment is associated with a mutation in DFNA5. Nature Genetics 1998; 20: 194–7.
   PubMed Web of Science ®Google Scholar
• Verhoeven K, Van Camp G, Govaerts PJ, Balemans W, Schatteman I, Verstreken M, Van Laer L, Smith RJH, Brown MR, Van de Heyning PH, Somers T, Offeciers FE, Willems PJ. A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24. American Journal of Human Genetics 1997; 60: 1168–73.
   PubMed Web of Science ®Google Scholar
• Verhoeven K, Van Laer L, Kirschhofer K, Legan PK, Hughes DC, Schatteman I, Verstreken M, Van Hauwe P, Coucke P, Chen A, Smith RJH, Somers T, Offeciers FE, Van de Heyning P, Richardson GP, Wachtler F, Kimberling WT, Willems PJ, Govaerts PJ, Van Camp G. Mutations in the human a-tectorin gene cause autosomal dominant nonsyndromic hearing impairment. Nature Genetics 1998; 19: 60–2.
   PubMed Web of Science ®Google Scholar
• Vikkula M, Mariman ECM, Lui VCH, Zhidkova NI, Tiller GE, Goldring MB, van Beersum SEC, de Waal-Malefijt MC, van den Hoogen FHJ, Ropers HH, Mayne R, Cheah KSE, Olsen BR, Warman ML, Brunner HG. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell 1995; 80: 431–7.
   PubMed Web of Science ®Google Scholar
• Wayne S, Robertson NG, Declau F, Chen N, Verhoeven K, Prasad S, TranebjaÄrg L, Morton CC, Ryan AF, Van Camp G, Smith RJH. Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. Human Molecular Genetics 2001; 10: 195–200.
   PubMed Web of Science ®Google Scholar
• Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD, Kelley PM, Kimberling WJ, Wagenaar M, Levi-Acobas F, Larget-Piet D, Munnich A, Steel KP, Brown SDM, Petit C. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 1995; 374: 60–1.
   PubMed Web of Science ®Google Scholar
• Weil D, Kussel P, Blanchard S, Levy G, Levi-Acobas F, Drira M, Ayadi H, Petit C. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nature Genetics 1997; 16: 191–3.
   PubMed Web of Science ®Google Scholar
• Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR, Xie W, Hu DX, Zheng D, Shi XL, Wang DA, Xia K, Yu KP, Liao XD, Feng Y, Yang YF, Xiao JY, Xie DH, Huang JZ. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nature Genetics 1998; 20: 370–3.
   PubMed Web of Science ®Google Scholar
• Xiao S, Yu C, Chou X, Yuan W, Wang Y, Bu L, Fu G, Qian M, Yang J, Shi Y, Hu L, Han B, Wang Z, Huang W, Liu J, Chen Z, Zhao G, Kong X. Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nature Genetics 2001; 27: 201–4.
   PubMed Web of Science ®Google Scholar
• Yang T, Smith RJH. A novel locus DFNA26 maps to chromosome 17q25 in two unrelated families with progressive autosomal dominant hearing loss. American Journal of Human Genetics 2000; 67 suppl 2: 300.
   Google Scholar
• Young T-L, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cator T, Griffin A, Fernandez B, Lee MK, King M-C. Nonsyndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Human Molecular Genetics 2001; 10: 2509—14.
   PubMed Web of Science ®Google Scholar