Corrigendum to Genetics of Hearing and Deafness [Anat Rec., 2012 Nov;, 295(11), 1812-1829, Epub 2012 Oct 8.] DOI: 10.1002/ar.22579;Genetics of Hearing and Deafness

Anatomical Record

Volumn 295, Issue 11, 2012, Pages 1812-1829

  Angeli, Simon ^a   Lin, Xi ^b   Liu, Xue Zhong ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Diagnosis; Gene; Genetics; Mutation; Nonsyndromic hearing loss; Treatment

Indexed keywords

CADHERIN 23; CONNEXIN 26; CONNEXIN 30; ION CHANNEL; MYOSIN; MYOSIN VIIA; OTOFERLIN; PENDRIN; PROTEIN MYO15A; UNCLASSIFIED DRUG;

ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CYTOMEGALOVIRUS INFECTION; DNA MODIFICATION; ETHNICITY; GENE CONTROL; GENE DELETION; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENETIC CODE; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC VARIABILITY; GENETICS; HEARING; HEARING IMPAIRMENT; HUMAN; LONG QT SYNDROME; MECHANOTRANSDUCTION; MOLECULAR DIAGNOSIS; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PENDRED SYNDROME; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PURE TONE AUDIOMETRY; SPEECH AUDIOMETRY; STEREOCILIUM; SYNAPTIC TRANSMISSION; USHER SYNDROME; WOLFRAM SYNDROME;

EID: 84867896261     PISSN: 19328486     EISSN: 19328494     Source Type: Journal    
DOI: 10.1002/ar.23260     Document Type: Erratum

References (126)

1. Adato A, Michel V, Kikkawa Y, Reiners J, Alagramam KN, Weil D, Yonekawa H, Wolfrum U, El-Amraoui A, Petit C. 2005. Interactions in the network of Usher syndrome type 1 proteins. Hum Mol Genet 14: 347-356.
2. Ahmad S, Tang W, Chang Q, Qu Y, Hibshman J, Li Y, Sohl G, Willecke K, Chen P, Lin X. 2007. Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness. Proc Natl Acad Sci USA 104: 1337-1341.
3. Alagramam KN, Kwon HY, Cacheiro NL, Stubbs L, Wright CG, Erway LC, Woychik RP. 1999. A new mouse insertional mutation that causes sensorineural deafness and vestibular defects. Genetics 152: 1691-1699.
4. Avraham KB. 2003. Mouse models for deafness: lessons for the human inner ear and hearing loss. Ear Hear 24: 332-341.
5. Avraham KB, Hasson T, Steel K P, Kingsley DM, Russell LB, Mooseker MS, Copeland NG, Jenkins NA. 1995. The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells. NatGenet 11: 369-375.
6. Belyantseva IA, Perrin BJ, Sonnemann KJ, Zhu M, Stepanyan R, McGee J, Frolenkov GI, Walsh EJ, Friderici KH, Friedman TB, Ervasti JM. 2009. Gamma-actin is required for cytoskeletal maintenance but not development. Proc Natl Acad Sci USA 106: 9703-9708.
7. Ben-Yosef T, Belyantseva IA, Saunders TL, Hughes ED, Kawamoto K, Van Itallie CM, Beyer LA, Halsey K, Gardner DJ, Wilcox ER, Rasmussen J, Anderson JM, Dolan DF, Forge A, Raphael Y, Camper SA, Friedman T. 2003. Hum Mol Genet 12: 2049-2061.
8. Berggren D, Frenz D, Galinovic-Schwartz V, Van de Water TR. 1997. Fine structure of extracellular matrix and basal laminae in two types of abnormal collagen production: L-proline analog-treated otocyst cultures and disproportionate micromelia (Dmm/Dmm) mutants. Hear Res 107: 125-135.
9. Brown KS, Cranley RE, Greene R, Kleinman HK, Pennypacker JP. 1981. Disproportionate micromelia (Dmm): an incomplete dominant mouse dwarfism with abnormal cartilage matrix. Embryol Exp Morphol 62: 165-182.
10. Bryda EC, Kim HJ, Legare ME, Frankel WN, Noben-Trauth K. 2001. High-resolution genetic and physical mapping of modifier-of-deafwaddler (mdfw) and Waltzer (Cdh23v). Genomics 73: 338-342.
11. Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ. 2001. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat 17: 403-411.
12. Casimiro MC, Knollmann BC, Ebert SN, Vary JC, Jr., Greene AE, Franz MR, Grinberg A, Huang SP, Pfeifer K. 2001. Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome. Proc Natl Acad Sci USA 98: 2526-2531.
13. Cheatham MA, Huynh KH, Gao J, Zuo J, Dallos P. 2004. Cochlear function in Prestin knockout mice. J Physiol 560: 821-830.
14. Cho H, Yamada Y, Yoo TJ. 1991. Ultrastructural changes of cochlea in mice with hereditary chondrodysplasia (cho/cho). Ann N Y Acad Sci 630: 259-261.
15. Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, Kittles R, Eisenman D, Jeffrey Kim H, Niparko J, Thomsen J, Arnos KS, Nance WE, King KA, Zalewski CK, Brewer CC, Shawker T, Reynolds JC, Butman JA, Karniski LP, Alper SL, Griffith AJ. 2009. Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? Hum Mutat 30: 599-608.
16. Cohen MM, Gorlin RJ 1995. Epidemiology, etiology and genetic patterns. In: Gorlin RJ, Toriello HV, Cohen MMJ, editors. Hereditary hearing loss and its syndromes. New York: Oxford University Press. p 9-21.
17. Cohen-Salmon M, Ott T, Michel V, Hardelin JP, Perfettini I, Eybalin M, Wu T, Marcus DC, Wangemann P, Willecke K, Petit C. 2002. Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death. Curr Biol 12: 1106-1111.
18. Cohn ES, Kelley PM. 1999. Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss. Am J Med Genet 89: 130-136.
19. Cosgrove D, Samuleson G, Meehan DT, Miller C, McGee J, Walsh EJ, Siegel M. 1998. Ultrastructural, physiological, and molecular defects in the inner ear of a gene-knockout mouse model for autosomal Alport syndrome. Hear Res: 121: 84-98.
20. Davis JM, Elfenbein J, Schum R, Bentler RA. 1986. Effects of mild and moderate hearing impairments on language, educational, and psychosocial behavior of children. J Speech Hear Disord 51: 53-62.
21. Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabedian EN, Petit C. 1999. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 353: 1298-3000.
22. Di Palma F, Holme RH, Bryda EC, Belyantseva IA, Pellegrino R, Kachar B, Steel KP, Noben-Trauth K. 2001. Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. Nat Genet 27: 103-107.
23. Donahue LR, Chang B, Mohan S, Miyakoshi N, Wergedal JE, Baylink DJ, Hawes NL, Rosen CJ, Ward-Bailey P, Zheng QY, Bronson RT, Johnson KR, Davisson MT. 2003. A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis. J Bone Miner Res 18: 1612-1621.
24. Dong S, Leung KK, Pelling AL, Lee PY, Tang AS, Heng HH, Tsui LC, Tease C, Fisher G, Steel KP, Cheah KS. 2002. Circling, deafness, and yellow coat displayed by yellow submarine (ysb) and light coat and circling (lcc) mice with mutations on chromosome 3. Genomics 79: 777.
25. + conduction and selectivity. Science 280: 69-77.
26. Ebermann I, Phillips JB, Liebau MC, Koenekoop RK, Schermer B, Lopez I, Schäfer E, Roux AF, Dafinger C, Bernd A, Zrenner E, Claustres M, Blanco B, Nürnberg G, Nürnberg P, Ruland R, Westerfield M, Benzing T, Bolz HJ. 2010. PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest 120: 1812-1823.
27. Erkman L, McEvilly RJ, Luo L, Ryan AK, Hooshmand F, O'Connell SM, Keithley EM, Rapaport DH, Ryan AF, Rosenfeld MG. 1996. Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and visual system development. Nature 381: 603-606.
28. Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, Mansfield E, Rappaport E, Govea N, Milà M, Zelante L, Gasparini P. 1998. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 351: 394-398.
29. Everett LA, Belyantseva IA, Noben-Trauth K, Cantos R, Chen A, Thakkar SI, Hoogstraten-Miller SL, Kachar B, Wu DK, Green ED. 2001. Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. Hum Mol Genet 10: 153-161.
30. Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M., Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED. 1997. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 17: 411-422.
31. Fasquelle L, Scott HS, Lenoir M, Wang J, Rebillard G, Gaboyard S, Venteo S, Francois F, Mausset-Bonnefont AL, Antonarakis SE, Neidhart E, Chabbert C, Puel JL, Guipponi M, Delprat B. 2011. Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing. J Biol Chem: 286: 17383-17397.
32. Friedman LM, Dror AA, Avraham KB. 2007. Mouse models to study inner ear development and hereditary hearing loss. Int J Dev Biol 51: 609-631.
33. Friedman TB, Hinnant JT, Ghosh M, Boger ET, Riazuddin S, Lupski JR, Potocki L, Wilcox ER. 2002. DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation. Adv Otorhinolaryngol 61: 124-130.
34. Gabriel HD, Jung D, Butzler C, Temme A, Traub O, Winterhager E, Willecke K. 1998. Transplacental uptake of glucose is decreased in embryonic lethal connexin26-deficient mice. J Cell Biol 140: 1453-1461.
35. Gibson F, Walsh J, Mburu P, Varela A, Brown KA, Antonio M, Beisel KW, Steel KP, Brown SD. 1995. A type VII myosin encoded by the mouse deafness gene shaker-1. Nature 374: 62-64.
36. Green GE, Mueller RF, Cohn ES, Avraham KB, Kanaan M, Smith RJH. 2003. Audiologic manifestations and features of connexin 26 deafness. Audiolog Med 1: 5-11.
37. Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ. 1999. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA 281: 2211-2216.
38. Griffith AJ, Wangemann P. 2011. Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models, Hear Res 281: 11-17.
39. Hertzano R, Dror AA, Montcouquiol M, Ahmed ZM, Ellsworth B, Camper S, Friedman TB, Kelley MW, Avraham KB. 2007. Lhx3, a LIM domain transcription factor, is regulated by Pou4f3 in the auditory but not in the vestibular system. Eur J Neurosci 25: 999-1005.
40. Hilgert N, Alasti F, Dieltjens N, Pawlik B, Wollnik B, Uyguner O, Delmaghani S, Weil D, Petit C, Danis E, Yang T, Pandelia E, Petersen MB, Goossens D, Favero JD, Sanati MH, Smith RJ, Van Camp G. 2008. Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. Clin Genet 74: 223-232.
41. Hilgert N, Smith RJ, Van Camp G. 2009. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res 681: 189-196.
42. Holme RH, Steel KP. 2002. Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice. Hear Res 169: 13-23.
43. Huygen PL, Pauw RJ, Cremers CW. 2007. Audiometric profiles associated with genetic non-syndromal hearing impairment: a review and phenotype analysis. In: Alessandro M, editor. Genes, hearing and deafness. London: Informa Healthcare. p 185-204.
44. Inoshita A, Iizuka T, Okamura HO, Minekawa A, Kojima K, Furukawa M, Kusunoki T, Ikeda K. 2008. Postnatal development of the organ of Corti in dominant-negative Gjb2 transgenic mice. Neuroscience 156: 1039-1047.
45. Johnson KR, Cook SA, Erway LC, Matthews AN, Sanford LP, Paradies NE, Friedman RA. 1999. Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome. Hum Mol Genet 8: 645-653.
46. Johnson KR, Gagnon LH, Webb LS, Peters LL, Hawes NL, Chang B, Zheng QY. 2003. Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene. Hum Mol Genet 12: 3075.
47. frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher Syndrome IIC. Genomics 85: 582-590.
48. Karis A, Pata I, van Doorninck JH, Grosveld F, de Zeeuw CI, de Caprona D, Fritzsch B. 2001. Transcription factor GATA-3 alters pathway selection of olivocochlear neurons and affects morphogenesis of the ear. J Comp Neurol : 429:615-630.
49. Kawashima Y, Geleoc GS, Kurima K, Labay V, Lelli A, Asai Y, Makishima T, Wu DK, Della Santina CC, Holt JR, Griffith AJ. 2011. Mechanotransduction in mouse inner ear hair cells requires transmembrane channel-like genes 1 and 2. J Clin Invest 121: 4796-4809.
50. Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ. 1998. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 62: 792-799.
51. Kharkovets T, Dedek K, Maier H, Schweizer M, Khimich D, Nouvian R, Vardanyan V, Leuwer R, Moser T, Jentsch TJ. 2006. Mice with altered KCNQ4 K+ channels implicate sensory outer hair cells in human progressive deafness. EMBO J 25: 642-652.
52. Kiernan AE, Pelling AL, Leung KK, Tang AS, Bell DM, Tease C, Lovell-Badge R, Steel KP, Cheah KS. 2005. Sox2 is required for sensory organ development in the mammalian inner ear. Nature 434: 1031-1035.
53. Kikkawa Y, Shitara H, Wakana S, Kohara Y, Takada T, Okamoto M, Taya C, Kamiya K, Yoshikawa Y, Tokano H, Kitamura K, Shimizu K, Wakabayashi Y, Shiroishi T, Kominami R, Yonekawa H. 2003. Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice. Hum Mol Genet 12: 453-461.
54. Kudo T, Kure S, Ikeda K, Xia AP, Katori Y, Suzuki M, Kojima K, Ichinohe A, Suzuki Y, Aoki Y, Kobayashi T, Matsubara Y. 2003. Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness. Hum Mol Genet 12: 995-1004.
55. Lee MP, Ravenel JD, Hu RJ, Lustig LR, Tomaselli G, Berger RD, Brandenburg SA, Litzi TJ, Bunton TE, Limb C, Francis H, Gorelikow M, Gu H, Washington K, Argani P, Goldenring JR, Coffey RJ, Feinberg AP. 2000. Targeted disruption of the Kvlqt1 gene causes deafness and gastric hyperplasia in mice. J Clin Invest 106: 1447-1455.
56. Legan PK, Lukashkina VA, Goodyear RJ, Kossi M, Russell IJ, Richardson GP. 2000. A targeted deletion in α-tectorin reveals that the tectorial membrane is required for the gain and timing of cochlear feedback. Neuron 28: 273-285.
57. Legan PK, Lukashkina VA, Goodyear RJ, Lukashkin AN, Verhoeven K, Van Camp G, Russell IJ, Richardson GP. 2005. A deafness mutation isolates a second role for the tectorial membrane in hearing. Nat Neurosci 8: 1035-1042.
58. Lemmerling MM, Mancuso AA, Antonelli PJ, Kubilis PS. 1997. Normal modiolus: CT appearance in patients with large vestibular aqueduct. Radiology 204: 213-219.
59. LePage DF, Conlon RA. 2006. Animal models for disease: knockout, knock-in, and conditional mutant mice. Methods Mol Med 129: 41-67.
60. Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman RB, Green ED, Wilcox ER. 1998. A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 18: 215-217.
61. Liberman M, Gao J, He D, Wu X, Jia S, Zuo J. 2002. Prestin is required for electromotility of the outer hair cell and for the cochlear amplifier. Nature 419: 300-304.
62. Lipan M, Ouyang XM, Yan D, LL Du, Angeli S, Liu XZ. 2010. Clinical comparison of hearing impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations. Laryngoscope 120: 811-814.
63. Liu XZ, Xu LR. 1994. Non-syndromic genetic deafness: an analysis of audiograms. Ann Otol Rhinol Laryngol 103: 428-433.
64. Liu XZ, Pandya A, Angeli S, Telischi FF, Arnos KS, Nance WE, Balkany T. 2005. Audiological features of GJB2 (connexin 26) deafness. Ear Hear 26: 361-369.
65. Liu XZ, Xiaomei Ke, Angeli S, Ouyang XM, Du LL, Liu W, Yan D. 2008. Audiological and genetic features of mitDNA deafness. Acta Otolaryngol 128: 732-738.
66. Liu XZ, Xu LR, Zhang SL, Xu Y. 1994. Epidemiological and genetic studies of congenital profound deafness. Am J Med Genet 53: 192-195.
67. Liu X, Bulgakov OV, Darrow KN, Pawlyk B, Adamian M, Liberman MC, Li T. 2007. Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. Proc Natl Acad Sci USA 104: 4413-4418.
68. Makishima T, Rodriguez CI, Robertson NG, Morton CC, Stewart CL, Griffith AJ. 2005. Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder. Hum Genet 118: 29-34.
69. Marazita ML, Ploughman LM, Rawlings B, Remington E, Arnos KS, Nance WE. 1993. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet 46: 486-491.
70. Matthijs G, Claes S, Longo-Mbenza B, Cassiman JJ. 1996. Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree. Eur J Hum Genet 4: 46-51.
71. 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 CW, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJ. 1999. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet 23: 413-419.
72. Mese G, Sellitto C, Li L, Wang HZ, Valiunas V, Richard G, Brink PR, White TW. 2011. The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome. Mol Biol Cell 22: 4776-4786.
73. Morell RJ, Kim HJ, Hood LJ, Goforth L, Friderici K, Fisher R, Van Camp G, Berlin CI, Oddoux C, Ostrer H, Keats B, Friedman TB. 1998. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 339: 1500-1505.
74. Morsli H, Tuorto F, Choo D, Postiglione MP, Simeone A, Wu DK. 1999. Otx1 and Otx2 activities are required for the normal development of the mouse inner ear. Development 126: 2335-2343.
75. Morton NE. 1990. Genetic linkage and complex diseases: a comment. Genet Epidemiol 7: 33-34.
76. Morton NE. 1991. Genetic epidemiology of hearing loss. Ann NY Acad Sci 630: 32-37.
77. Morton CC, Nance W. 2006. Newborn hearing screening-a silent revolution. N Engl J Med 354: 2151-2164.
78. 2+ channels. Neuroscience 141: 1849-1860.
79. Noben-Trauth K, Zheng QY, Johnson KR. 2003. Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss. Nat Genet 35: 21-23.
80. Ohtsuka A, Yuge I, Kimura RS, Namba A, Abe S, Van Laer L, Van Camp G, Usami S. 2003. GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. Hum Genet 112: 329-333.
81. Pandya A, Arnos KS, Xia XJ, Welch KO, Blanton SH, Friedman TB, Garcia Sanchez G, Liu XZ, Morell R, Nance WE. 2003. Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Med 5: 295-303.
82. Parker LL, Gao J, Zuo J. 2006. Absence of hearing loss in a mouse model for DFNA17 and MYH9-related disease: the use of public gene-targeted ES cell resources. Brain Res 1091: 235-242.
83. Plantinga RF, Pennings RJ, Huygen PL, Bruno R, Eller P, Barrett TG, Vialettes B, Paquis-Fluklinger V, Lombardo F, Cremers CW. 2008. Hearing impairment in genotyped Wolfram syndrome patients. Ann Otol Rhinol Laryngol 117: 494-500.
84. Probst FJ, Fridell RA, Raphael Y, Saunders TL, Wang A, Liang Y, Morell RJ, Touchman JW, Lyons RH, Noben-Trauth K, Friedman TB, Camper SA. 1998. Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. Science 280: 1444-1447.
85. Purcell DD, Fischbein N, Lalwani AK. 2003. Identification of previously "undetectable" abnormalities of the bony labyrinth with computed tomography measurement. Laryngoscope 113: 1908-1911.
86. Qu Y, Tang WX, Zhou BF, Ahmad S, Chang Q, Li XM, Lin X. 2012. Early developmental expression of connexin26 in the cochlea contributes to its dominate functional role in the cochlear gap junctions. Biochem Biophys Res Commun 417: 245-250.
87. Rapin I, Gravel J. 2003. Auditory neuropathy: physiologic and pathologic evidence calls for the more diagnostic specificity. Int J Pediatr Otorhinolaryngol 67: 707-728.
88. Rehm HL, Zhang DS, Brown MC, Burgess B, Halpin C, Berger W, Morton CC, Corey DP, Chen ZY. 2002. Vascular defects and sensorineural deafness in a mouse model of Norrie disease. J Neurosci 22: 4286-4292.
89. Robertson NG, Lu L, Heller S, Merchant SN, Eavey RD, McKenna M, Nadol JB, Miyamoto RT, Linthicum FH, Lubianca Neto JF, Hudspeth AJ, Seidman CE, Morton CC, Seidman JG. 1998. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. Nat Genet 20: 299-303.
90. Robertson NG, Jones SM, Sivakumaran TA, Giersch AB, Jurado SA, Call LM, Miller CE, Maison SF, Liberman MC, Morton CC. 2008. A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction. Hum Mol Genet 17: 3426-3434.
91. Rodríguez-Ballesteros M, del Castillo FJ, Martín Y, Moreno-Pelayo MA, Morera C, Prieto F, Marco J, Morant A, Gallo-Terán J, Morales-Angulo C, Navas C, Trinidad G, Tapia MC, Moreno F, del Castillo I. 2003. Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF). Hum Mutat 22: 451-456.
92. Rouillon I, Marcolla A, Roux I, Marlin S, Feldmann D, Couderc R, Jonard L, Petit C, Denoyelle F, Garabédian EN, Loundon N. 2006. Results of cochlear implantation in two children with mutations in the OTOF gene. Int J Pediatr Otorhinolaryngol 70: 689-696.
93. Roux I, Safieddine S, Nouvian R, Grati M, Simmler MC, Bahloul A, Perfettini I, Le Gall M, Rostaing P, Hamard G, Triller A, Avan P, Moser T, Petit C. 2006. Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. Cell 127: 277-289.
94. Schwander M, Xiong W, Tokita J, Lelli A, Elledge HM, Kazmierczak P, Sczaniecka A, Kolatkar A, Wiltshire T, Kuhn P, Holt JR, Kachar B, Tarantino L, Muller U. 2009. A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells. Proc Natl Acad Sci USA 106: 5252-5257.
95. Scott DA, Karniski LP. 2000. Human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange. Am J Physiol Cell Physiol 278: C207-C211.
96. Skradski SL, Clark AM, Jiang H, White HS, Fu YH, Ptacek LJ. 2001. A novel gene causing a mendelian audiogenic mouse epilepsy. Neuron 31: 537-544.
97. Smith RJH, Bale JF, White KR. 2005. Sensorineural hearing loss in children. Lancet 365: 879-890.
98. Smith RJH, Green GE, Van Camp G. 2004. Hereditary hearing loss and deafness. GeneReviews at GeneTests: medical genetics. Information Resource [database online]. Available at: http://www.geneclinics.org/. Accessed on July 15, 2004.
99. Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, Del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Lopponen T, Lopponen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. 2005. GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 77: 945-957.
100. Sun Y, Tang W, Chang Q, Wang Y, Kong W, Lin X. 2009. Connexin30 null and conditional connexin26 null mice display distinct pattern and time course of cellular degeneration in the cochlea. J Comp Neurol 516: 569-579.
101. Suzuki N, Asamura K, Kikuchi Y, Takumi Y, Abe S, Imamura Y, Hayashi T, Aszodi A, Fässler R, Usami S. 2005. Type IX collagen knock-out mouse shows progressive hearing loss. Neurosci Res 51: 2930-298.
102. Tamagawa Y, Kitamura K, Ishida T, Ishikawa K, Tanake H, Tsuji S, Nishizawa MA. 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.
103. Tekin M, Akcayoz D, Incesulu A. 2005. A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy. Am J Med Genet A 138: 6-10.
104. Tekin M, Arnos KS, Pandya A. 2001. Advances in hereditary deafness. Lancet 358: 1082-1090.
105. Teubner B, Michel V, Pesch J, Lautermann J, Cohen-Salmon M, Söhl G, Jahnke K, Winterhager E, Herberhold C, Hardelin JP, Petit C, Willecke K. 2003. Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential. Hum Mol Genet 12: 13-21.
106. Torres M, Gómez-Pardo E, Gruss P. 1996. Pax2 contributes to inner ear patterning and optic nerve trajectory. Development 122: 3381-3391.
107. Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ. 1999. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet 104: 188-192.
108. Varga R, Avenarius MR, Kelley PM, Keats BJ, Berlin CI, Hood LJ, Morlet TG, Brashears SM, Starr A, Cohn ES, Smith RJH, Kimberling WJ. 2006. OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele. J Med Genet 43: 576-581.
109. Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C. 2000. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet 26: 51-55.
110. Vetter DE, Mann JR, Wangemann P, Liu J, McLaughlin KJ, Lesage F, Marcus DC, Lazdunski M, Heinemann SF, Barhanin J. 1996. Inner ear defects induced by null mutation of the isk gene. Neuron 17: 1251-1264.
111. Richard V, Fan K, Angeli S, Balkany TJ, Liu XZ. 2010. Cochlear implantation in common forms of genetic deafness. Int J Pediatr Otorhinolaryngol 74: 1107-1112.
112. Wada T, Wakabayashi Y, Takahashi S, Ushiki T, Kikkawa Y, Yonekawa H, Kominami R. 2001. A point mutation in a cadherin gene, Cdh23, causes deafness in a novel mutant, Waltzer mouse niigata. Biochem Biophys Res Commun 283: 113-117.
113. Wang Y, Chang Q, Tang W, Sun Y, Zhou B, Li H, Lin X. 2009. Targeted connexin26 ablation arrests postnatal development of the organ of Corti. Biochem Biophys Res Commun 385: 33-37.
114. Wangemann P, Itza EM, Albrecht B, Wu T, Jabba SV, Maganti RJ, Lee JH, Everett LA, Wall SM, Royaux IE, Green ED, Marcus DC. 2004. Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model. BMC Med 2: 30.
115. Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Lainé S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C. 2003. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet 12: 463-1471.
116. Wilch E, Zhu M, Burkhart KB, Regier M, Elfenbein JL, Fisher RA, Friderici KH. 2006. Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele. Am J Hum Genet 79: 174-179.
117. Wilcox ER, Burton QL, Naz S, Riazuddin S, Smith TN, Ploplis B, Belyantseva I, Ben-Yosef T, Liburd NA, Morell RJ, Kachar B, Wu DK, Griffith AJ, Friedman TB. 2001. Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. Cell 104: 165-172.
118. Wu X, Gao J, Guo Y, Zuo J. 2004. Hearing threshold elevation precedes hair-cell loss in prestin knockout mice. Brain Res Mol Brain Res 126: 30-37.
119. Xiang M, Gan L, Li D, Chen ZY, Zhou L, O'Malley BWJr, Klein W, Nathans J. 1997. Essential role of POU-domain factor Brn-3c in auditory and vestibular hair cell development. Proc Natl Acad Sci USA 94: 9445-9450.
120. Xu PX, Adams J, Peters H, Brown MC, Heaney S, Maas R. 1999. Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordial. Nat Genet 23: 113-117.
121. Yan D, Liu XZ. 2008. Cochlear molecules and hereditary deafness. Front Biosci 13: 4972-4983.
122. Yan D, Liu XZ. 2010. Genetics and pathological mechanisms of Usher syndrome. J Hum Genet 55: 327-335.
123. Yan D, Park HJ, Ouyang XM, Pandya A, Doi K, Erdenetungalag R, Du LL, Matsushiro N, Nance WE, Griffith AJ, Liu XZ. 2003. Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in East Asians. Hum Genet 114: 44-50.
124. Zheng J, Shen W, He DZ, Long KB, Madison LD, Dallos P. 2000a. Prestin is the motor protein of cochlear outer hair cells. Nature 405: 149-155.
125. Zheng L, Sekerková G, Vranich K, Tilney LG, Mugnaini E, Bartles JR. 2000b. The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins. Cell 102: 377-385.
126. Zheng QY, Johnson KR, Erway LC. 1999. Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses. Hear Res 130: 94-107.