Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing

Bitner-Glindzicz, 2002, Hereditary deafness and phenotyping in humans, Br. Med. Bull., 63, 73, 10.1093/bmb/63.1.73 Tekin, 2001, Advance in hereditary deafness, Lancet, 358, 1082, 10.1016/S0140-6736(01)06186-4 Pandya, 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, 10.1097/01.GIM.0000078026.01140.68 Friedman, 2003, Human nonsyndromic sensorineural deafness, Annu. Rev. Genomics Hum. Genet., 4, 341, 10.1146/annurev.genom.4.070802.110347 Mason, 1998, Universal infant hearing screening by automated auditory brainstem response measurement, Pediatrics, 101, 221, 10.1542/peds.101.2.221 Mahtre, 1996, Molecular genetics of deafness, Otolaryngol. Clin. North Am., 29, 421, 10.1016/S0030-6665(20)30364-9 Das, 1996, Aetiology of bilateral sensorineural hearing impairment in children: a 10 year study, Arch. Dis. Child, 74, 8, 10.1136/adc.74.1.8 Parving, 1999, The need for universal neonatal hearing screening—some aspects of epidemiology and identification, Acta Paediatr., 432, 69, 10.1111/j.1651-2227.1999.tb01163.x Parving, 1996, Epidemiology of genetic hearing impairment, 73 Smith, 2003, Genetic screening for deafness, Pediatr. Clin. North Am., 50, 315, 10.1016/S0031-3955(03)00026-9 Petersen, 2002, Non-syndromic autosomal-dominant deafness, Clin. Genet., 62, 1, 10.1034/j.1399-0004.2002.620101.x Pfister, 2003, Selected resources for hereditary hearing impairment on the world wide web, Ear Hear., 24, 349, 10.1097/01.AUD.0000085061.26106.2E Fischel-Ghodsian, 1999, Mitochondrial deafness mutations reviewed, Hum. Mutat., 13, 261, 10.1002/(SICI)1098-1004(1999)13:4<261::AID-HUMU1>3.0.CO;2-W Guilford, 1994, A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q, Nat. Genet., 6, 24, 10.1038/ng0194-24 Kelsell, 1997, Connexin 26 mutations in hereditary non-syndromic sensorineural deafness, Nature, 387, 80, 10.1038/387080a0 Lopponen, 2003, Connexin 26 mutations and nonsyndromic hearing impairment in northern Finland, Laryngoscope, 113, 1758, 10.1097/00005537-200310000-00018 Lynch, 1997, Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous, Science, 278, 1315, 10.1126/science.278.5341.1315 Scott, 2001, Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness, Nat. Genet., 27, 59, 10.1038/83768 Nance, 2003, The genetics of deafness, Ment. Retard. Dev. Disabil. Res. Rev., 9, 109, 10.1002/mrdd.10067 Guan, 2004, Molecular pathogenetic mechanism of maternally inherited deafness, Ann. N. Y. Acad. Sci., 1011, 259, 10.1196/annals.1293.025 Van Laer, 2003, Nonsyndromic hearing loss, Ear Hear., 24, 275, 10.1097/01.AUD.0000079805.04016.03 Ghosh, 2004, Genetics of deafness in India, Indian J. Pediatr., 71, 531, 10.1007/BF02724296 Hardelin, 2004, Hereditary deafness: molecular genetics, Med. Sci. (Paris), 20, 311, 10.1051/medsci/2004203311 van Wijk, 2003, A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26), J. Med. Genet., 40, 879, 10.1136/jmg.40.12.879 Yang, 2003, Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26), Am. J. Hum. Genet., 73, 1082, 10.1086/379286 Morell, 2000, A new locus for late-onset, progressive, hereditary hearing loss DFNA20 maps to 17q25, Genomics, 63, 1, 10.1006/geno.1999.6058 Ahmed, 2003, The molecular genetics of Usher syndrome, Clin. Genet., 63, 431, 10.1034/j.1399-0004.2003.00109.x Sollner, 2004, Tubingen 2000 Screen Consortium. Mutations in cadherin 23 affect tip links in zebrafish sensory hair cells, Nature, 428, 955, 10.1038/nature02484 Bork, 2001, Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23, Am. J. Hum. Genet., 68, 26, 10.1086/316954 Koenig, 2003, Bardet–Biedl syndrome and Usher syndrome, Dev. Ophthalmol., 37, 126, 10.1159/000072043 Siemens, 2004, Cadherin 23 is a component of the tip link in hair-cell stereocilia, Nature, 428, 950, 10.1038/nature02483 Ben-Yosef, 2003, Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration, Hum. Mol. Genet., 12, 2049, 10.1093/hmg/ddg210 Grabski, 2003, Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin, Hum. Genet., 113, 406, 10.1007/s00439-003-0992-7 Robertson, 2003, Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9, J. Med. Genet., 40, 479, 10.1136/jmg.40.7.479 Lemaire, 2003, Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a Belgian family, Otol. Neurotol., 24, 743, 10.1097/00129492-200309000-00009 Ikezono, 2004, Identification of a novel cochlin isoform in the perilymph: insights to Cochlin function and the pathogenesis of DFNA9, Biochem. Biophys. Res. Commun., 314, 440, 10.1016/j.bbrc.2003.12.106 Vikkula, 1995, Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus, Cell, 80, 431, 10.1016/0092-8674(95)90493-X De Leenheer, 2004, Audiological characteristics of some affected members of a Dutch DFNA13/COL11A2 family, Ann. Otol. Rhinol. Laryngol., 113, 922, 10.1177/000348940411301112 McGuirt, 1999, Connexin 26 as a cause of hereditary hearing loss, Am. J. Audiol., 8, 93, 10.1044/1059-0889(1999/016) De Leenheer, 2001, Autosomal dominant inherited hearing impairment caused by a missense mutation in COL11A2 (DFNA13), Arch. Otolaryngol. Head Neck Surg., 127, 13, 10.1001/archotol.127.1.13 Ensink, 2001, A Dutch family with progressive autosomal dominant non-syndromic sensorineural hearing impairment linked to DFNA13, Clin. Otolaryngol., 26, 310, 10.1046/j.1365-2273.2001.00477.x Lisi, 2002, Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome, Genet. Couns., 13, 163 Binder, 2003, Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene, Brain, 126, 1814, 10.1093/brain/awg174 Hofmann, 2002, The C66W mutation in the deafness dystonia peptide 1 (DDP1) affects the formation of functional DDP1.TIM13 complexes in the mitochondrial intermembrane space, J. Biol. Chem., 277, 23287, 10.1074/jbc.M201154200 Bauer, 2003, The effect of GJB2 allele variants on performance after cochlear implantation, Laryngoscope, 113, 2135, 10.1097/00005537-200312000-00015 Jin, 1996, A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness, Nat. Genet., 14, 177, 10.1038/ng1096-177 Tranebjaerg, 2000, DFNA7, Adv. Otorhinolaryngol., 56, 97, 10.1159/000059074 Van Laer, 1998, Nonsyndromic hearing impairment is associated with a mutation in DFNA5, Nat. Genet., 20, 194, 10.1038/2503 Van Laer, 1997, Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNAS) to a 2cM region, and exclusion of candidate gene that is expressed in the cochlea, Eur. J. Hum. Genet., 5, 397, 10.1159/000484798 Kim, 2004, A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II, Hum. Genet., 115, 248, 10.1007/s00439-004-1143-5 Xiao, 2001, Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP, Nat. Genet., 27, 201, 10.1038/84848 Naz, 2004, Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction, J. Med. Genet., 41, 591, 10.1136/jmg.2004.018523 Wayne, 2001, Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus, Hum. Mol. Genet., 10, 195, 10.1093/hmg/10.3.195 Pfister, 2002, A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10, Mol. Med., 8, 607, 10.1007/BF03402171 Hand, 2002, Isolation and characterization of gap junction from tissue culture cells, J. Mol. Biol., 315, 587, 10.1006/jmbi.2001.5262 Jan, 2004, Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia, J. Invest. Dermatol., 122, 1108, 10.1111/j.0022-202X.2004.22518.x Chang, 2003, The role of connexins in human disease, Ear Hear., 24, 314, 10.1097/01.AUD.0000079801.55588.13 Kikuchi, 2000, Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness, Med. Electron Microsc., 33, 51, 10.1007/s007950070001 Green, 1999, Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness, J. Am. Med. Assoc., 281, 2211, 10.1001/jama.281.23.2211 Mueller, 1999, Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations—molecular and audiological findings, Int. J. Pediatr. Otorhinolaryngol., 50, 3, 10.1016/S0165-5876(99)00242-6 Estivill, 1998, Connexin-26 mutations in sporadic and inherited sensorineural deafness, Lancet, 351, 394, 10.1016/S0140-6736(97)11124-2 Kenna, 2001, Connexin 26 studies in patients with sensorineural hearing loss, Arch. Otolaryngol. Head Neck Surg., 127, 1037, 10.1001/archotol.127.9.1037 Lim, 2003, Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the midwestern United States, Arch. Otolaryngol. Head Neck. Surg., 129, 836, 10.1001/archotol.129.8.836 Cohn, 1999, Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss, Am. J. Med. Genet., 89, 130, 10.1002/(SICI)1096-8628(19990924)89:3<130::AID-AJMG3>3.0.CO;2-M Denoyelle, 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, 10.1016/S0140-6736(98)11071-1 Gurtler, 2002, Etiology of syndromic and nonsyndromic sensorineural hearing loss, Otolaryngol. Clin. North Am., 35, 891, 10.1016/S0030-6665(02)00053-1 Dent, 2004, Methodology of a multistate study of congenital hearing loss: preliminary data from Utah newborn screening, Am. J. Med. Genet., 125C, 28, 10.1002/ajmg.c.30002 Hone, 2003, Genetic screening for hearing loss, Clin. Otolaryngol., 28, 285, 10.1046/j.1365-2273.2003.00700.x Yan, 2003, Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians, Hum. Genet., 114, 44, 10.1007/s00439-003-1018-1 Azaiez, 2004, GJB2: the spectrum of deafness-causing allele variants and their phenotype, Hum. Mutat., 24, 305, 10.1002/humu.20084 Gronskov, 2004, GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment, Genet. Test., 8, 181, 10.1089/gte.2004.8.181 Liu, 2002, Connexin26 gene (GJB2): prevalence of mutations in the Chinese population, J. Hum. Genet., 47, 688, 10.1007/s100380200106 Morell, 1998, Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness, N. Engl. J. Med., 339, 1500, 10.1056/NEJM199811193392103 Abe, 2000, Prevalent connexin 26 gene (GJB2) mutations in Japanese, J. Med. Genet., 37, 41, 10.1136/jmg.37.1.41 Cryns, 2004, A genotype–phenotype correlation for GJB2 (connexin 26) deafness, J. Med. Genet., 41, 147, 10.1136/jmg.2003.013896 Rabionet, 2000, Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins, Hum. Mutat., 16, 190, 10.1002/1098-1004(200009)16:3<190::AID-HUMU2>3.0.CO;2-I Del Castillo, 2003, Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study, Am. J. Hum. Genet., 73, 1452, 10.1086/380205 Wu, 2003, Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness, Am. J. Med. Genet., 121A, 102, 10.1002/ajmg.a.20210 Balciuniene, 1998, Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family, Am. J. Hum. Genet., 63, 786, 10.1086/302012 Lustig, 2004, GJB2 gene mutations in cochlear implant recipients: prevalence and impact on outcome, Arch. Otolaryngol. Head Neck Surg., 130, 541, 10.1001/archotol.130.5.541 Denoyelle, 1998, Connexin 26 gene linked to a dominant deafness, Nature, 393, 319, 10.1038/30639 Martin, 1999, Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness, Hum. Mol. Genet., 8, 2369, 10.1093/hmg/8.13.2369 Hamelmann, 2001, Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana, Hum. Mutat., 18, 84, 10.1002/humu.1156 Morle, 2000, A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss, J. Med. Genet., 37, 368, 10.1136/jmg.37.5.368 Kelsell, 2001, Connexin mutations in skin disease and hearing loss, Am. J. Hum. Genet., 68, 559, 10.1086/318803 Venail, 2004, Nonsyndromic 35 delG mutation of the connexin 26 gene associated with deafness in syndromic children: two case reports, Laryngoscope, 114, 566, 10.1097/00005537-200403000-00033 Xia, 1998, Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment, Nat. Genet., 20, 370, 10.1038/3845 Liu, 2000, Mutations in connexin 31 underlie recessive as well as dominant non-syndromic hearing loss, Hum. Mol. Genet., 9, 63, 10.1093/hmg/9.1.63 Coucke, 1999, Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families, Hum. Mol. Genet., 8, 1321, 10.1093/hmg/8.7.1321 Lopez-Bigas, 2001, Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairmet, Hum. Mol. Genet., 10, 947, 10.1093/hmg/10.9.947 Richard, 1998, Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis, Nat. Genet., 20, 366, 10.1038/3840 Lautermann, 1998, Expression of the gap-junction connexins 26 and 30 in the rat cochlea, Cell Tissue Res., 294, 415, 10.1007/s004410051192 Kelley, 2000, Connexin 26: required for normal auditory function, Brain Res. Brain Res. Rev., 32, 184, 10.1016/S0165-0173(99)00080-6 Donaudy, 2003, Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss, Am. J. Hum. Genet., 72, 1571, 10.1086/375654 Walsh, 2002, From flies’ eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30, Proc. Natl. Acad. Sci. U.S.A., 99, 7518, 10.1073/pnas.102091699 Weil, 1997, The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene, Nat. Genet., 16, 191, 10.1038/ng0697-191 Liu, 1997, Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene, Nat. Genet., 17, 268, 10.1038/ng1197-268 Lalwani, 1999, A new locus for nonsyndromic hereditary hearing impairment, DFNA17, maps to chromosome 22 and represents a gene for cochleosaccular degeneration, Am. J. Hum. Genet., 64, 318, 10.1086/302216 Heath, 2001, Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May–Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes, Am. J. Hum. Genet., 69, 1033, 10.1086/324267 The May–Hegglin/Fechtner Syndrome Consortium, 2000, Mutations in MYH9 result in the May–Hegglin anomaly, and Fechtner and Sebastian syndromes, Nat. Genet., 6, 103, 10.1038/71434 Donaudy, 2004, Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4), Am. J. Hum. Genet., 74, 770, 10.1086/383285 Wang, 1998, Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3, Science, 280, 1447, 10.1126/science.280.5368.1447 Friedman, 2002, DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype–phenotype correlation, Adv. Otorhinolaryngol., 61, 124 Jovine, 2002, Sequence similarity between stereocilin and otoancorin points to a unified mechanism for mechanotransduction in the mammalian inner ear, BMC Cell Biol., 3, 28, 10.1186/1471-2121-3-28 Zwaenepoel, 2002, Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22, Proc. Natl. Acad. Sci. U.S.A., 99, 240, 10.1073/pnas.082515999 Mirghomizadeh, 2002, Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness, Neurobiol. Dis., 10, 157, 10.1006/nbdi.2002.0488 Yasunaga, 2000, DFNB9 and DFNB12, Adv. Otorhinolaryngol., 56, 164, 10.1159/000059097 Yasunaga, 2000, Physical map of the region surrounding the OTOFERLIN locus on chromosome 2p22–p23, Genomics, 66, 110, 10.1006/geno.2000.6185 Rodriguez-Ballesteros, 2003, Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF), Hum. Mutat., 22, 451, 10.1002/humu.10274 Murcia, 2001, Expression of Pcdh15 in the inner ear, nervous system and various epithelia of the developing embryo, Mech. Dev., 105, 163, 10.1016/S0925-4773(01)00388-4 de Kok, 1995, Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4, Science, 267, 685, 10.1126/science.7839145 Oh, 2003, Clinical and molecular genetic analysis of monozygotic twins displaying stapes gusher syndrome (DFN3), HNO, 51, 629, 10.1007/s00106-002-0777-7 de Kok, 1997, The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation, Hum. Mutat., 10, 207, 10.1002/(SICI)1098-1004(1997)10:3<207::AID-HUMU5>3.0.CO;2-F Vahava, 1998, Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans, Science, 279, 1950, 10.1126/science.279.5358.1950 Erkman, 1996, Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and visual system development, Nature, 381, 603, 10.1038/381603a0 Sheffield, 1996, Pendred syndrome maps to chromosome 7q21–34 and is caused by an intrinsic defect in thyroid iodine organification, Nat. Genet., 12, 424, 10.1038/ng0496-424 Borck, 2003, Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation, J. Clin. Endocrinol. Metab., 88, 2916, 10.1210/jc.2002-021334 Campbell, 2001, Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype–phenotype correlations, Hum. Mutat., 17, 403, 10.1002/humu.1116 Gurtler, 2003, GJB2 mutations in the Swiss hearing impaired, Ear Hear., 24, 440, 10.1097/01.AUD.0000090440.84513.B3 Everett, 1997, Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS), Nat. Genet., 17, 411, 10.1038/ng1297-411 Liu, 2003, Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss, Hum. Mol. Genet., 12, 1155, 10.1093/hmg/ddg127 Verpy, 2001, Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus, Nat. Genet., 29, 345, 10.1038/ng726 Kirschhofer, 1998, Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family, Cytogenet. Cell. Genet., 82, 126, 10.1159/000015086 Verhoeven, 1997, A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22–24, Am. J. Hum. Genet., 60, 1168 Peters, 2002, Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28, Hum. Mol. Genet., 11, 2877, 10.1093/hmg/11.23.2877 Greinwald, 1997, Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13–21, Genome Res., 7, 879, 10.1101/gr.7.9.879 Kurima, 2002, Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function, Nat. Genet., 30, 277, 10.1038/ng842 Naz, 2002, Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus, Am. J. Hum. Genet., 71, 632, 10.1086/342193 Guipponi, 2002, The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro, Hum. Mol. Genet., 11, 2829, 10.1093/hmg/11.23.2829 Wattenhofer, 2002, Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients, J. Mol. Med., 80, 124, 10.1007/s00109-001-0310-6 Masmoudi, 2001, Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness, Hum. Mutat., 18, 101, 10.1002/humu.1159 Scanlan, 1999, Isoforms of the human PDZ-73 protein exhibit differential tissue expression, Biochim. Biophys. Acta, 1445, 39, 10.1016/S0167-4781(99)00033-0 Verpy, 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, 10.1038/79171 Cryns, 2003, Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease, Hum. Mutat., 22, 275, 10.1002/humu.10258 Tanizawa, 2003, Genetic diagnosis of diabetes mellitus: Wolfram syndrome—from positional cloning to DNA diagnosis, Rinsho Byori, 51, 544 Young, 2001, Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutations in the Wolfram syndrome gene WFS1, Hum. Mol. Genet., 10, 2509, 10.1093/hmg/10.22.2509 Bespalova, 2001, Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss, Hum. Mol. Genet., 10, 2501, 10.1093/hmg/10.22.2501 Medlej, 2004, Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population, J. Clin. Endocrinol. Metab., 89, 1656, 10.1210/jc.2002-030015 Barrett, 1995, Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome, Lancet, 346, 1458, 10.1016/S0140-6736(95)92473-6 Swift, 1990, Psychiatric findings in Wolfram syndrome homozygotes, Lancet, 336, 667, 10.1016/0140-6736(90)92157-D Ajlouni, 2002, Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan, Am. J. Med. Genet., 115, 61, 10.1002/ajmg.10345 Mburu, 2003, Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31, Nat. Genet., 34, 421, 10.1038/ng1208 Hutchin, 2000, Mitochondrial defects and hearing loss, Cell. Mol. Life Sci., 57, 1927, 10.1007/PL00000673 Fischel-Ghodsian, 2003, Mitochondrial deafness, Ear Hear., 24, 303, 10.1097/01.AUD.0000079802.82344.B5 Han, 2000, Mitochondrial DNA4977 deletions associated with human presbycusis, Zhonghua Er Bi Yan Hou Ke Za Zhi, 35, 416 Peters, 2003, Sequence variations of mitochondrial DNA and individual sensitivity to the ototoxic effect of cisplatin, Anticancer Res., 23, 1249 Zhao, 2004, Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family, Am. J. Hum. Genet., 74, 139, 10.1086/381133 Kong, 2000, The role of mtDNA deletion in the sensitivity to aminoglycoside antibiotic induced deafness, Zhonghua Er Bi Yan Hou Ke Za Zhi, 35, 94 Tang, 2002, Genetic susceptibility to aminoglycoside ototoxicity: how many are at risk?, Genet. Med., 4, 336, 10.1097/00125817-200209000-00004 Morales Angulo, 2002, Audiometric features of familial hearing impairment transmitted by mitochondrial inheritance (A1555G), Acta Otorrinolaringol. Exp., 53, 641, 10.1016/S0001-6519(02)78358-1 Casano, 1998, Hearing loss due to the mitochondrial A1555G mutation in Italian families, Am. J. Med. Genet., 79, 388, 10.1002/(SICI)1096-8628(19981012)79:5<388::AID-AJMG11>3.0.CO;2-N Malik, 2003, Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia, J. Hum. Genet., 48, 480, 10.1007/s10038-003-0056-9 Van Camp, 2000, Maternally inherited hearing impairment, Clin. Genet., 57, 409, 10.1034/j.1399-0004.2000.570601.x Xing, 2000, Whole genome-wide scanning for a large pedigree with matrilineal deafness, Zhonghua Er Bi Yan Hou Ke Za Zhi, 35, 413 Finnila, 2003, Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation, Eur. J. Hum. Genet., 11, 652, 10.1038/sj.ejhg.5201017 Chen, 2004, Maternally inherited diabetes and deafness (MIDD) syndrome: a clinical and molecular genetic study of a Taiwanese family, Chang Gung Med. J., 27, 66 Chinnery, 2000, The spectrum of hearing loss due to mitochondrial DNA defects, Brain, 123, 82, 10.1093/brain/123.1.82 van den Ouweland, 1995, Maternally inherited diabetes and deafness (MIDD): a distinct subtype of diabetes associated with a mitochondrial tRNA(Leu)(UUR) gene point mutation, Muscle Nerve, 3, S124, 10.1002/mus.880181425 van den Ouweland, 1992, Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness, Nat. Genet., 1, 368, 10.1038/ng0892-368 Gerbitz, 1995, Mitochondrial diabetes mellitus: a review, Biochim. Biophys. Acta, 1271, 253, 10.1016/0925-4439(95)00036-4 Ishikawa, 2002, Nonsyndromic hearing loss caused by a mitochondrial T7511C mutation, Laryngoscope, 112, 1494, 10.1097/00005537-200208000-00030 Li, 2004, Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness, Nucleic Acids Res., 32, 867, 10.1093/nar/gkh226 Fischel-Ghodsian, 1995, Mitochondrial mutation associated with nonsyndromic deafness, Am. J. Otolaryngol., 16, 403, 10.1016/0196-0709(95)90078-0 Liu, 2000, Genetic epidemiologic study of mitochondrial DNA 7445A→G mutation among non-syndromic deafness in Chinese population, Lin Chuang Er Bi Yan Hou Ke Za Zhi, 14, 177 Hutchin, 2000, A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment, J. Med. Genet., 37, 692, 10.1136/jmg.37.9.692 Wiszniewska, 2002, The principles of molecular diagnosis of recessive forms of prelingual non-syndromic hearing loss, Med. Wieku Rozwoj., 6, 309 Brunger, 2000, Parental attitudes toward genetic testing for pediatric deafness, Am. J. Hum. Genet., 67, 1621, 10.1086/316901 Arnos, 2003, The implications of genetic testing for deafness, Ear Hear., 24, 324, 10.1097/01.AUD.0000079800.64741.CF Brodwolf, 2001, Further evidence for linkage of low-mid frequency hearing impairment to the candidate region on chromosome 4p16.3, Clin. Genet., 60, 155, 10.1034/j.1399-0004.2001.600211.x Goldstein, 2002, Further evidence for a third deafness gene within the DFNA2 locus, Am. J. Med. Genet., 108, 304, 10.1002/ajmg.10299 Grifa, 1999, Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus, Nat. Genet., 23, 16, 10.1038/12612 Mhatre, 2004, Genomic structure, cochlear expression, and mutation screening of KCNK6, a candidate gene for DFNA4, J. Neurosci. Res., 75, 25, 10.1002/jnr.10839 Gregan, 2003, A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment, Biochim. Biophys. Acta, 1638, 179, 10.1016/S0925-4439(03)00083-8 Komatsu, 2002, Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family, J. Hum. Genet., 47, 395, 10.1007/s100380200057 Bischoff, 2004, A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation, Audiol. Neurootol., 9, 34, 10.1159/000074185 Van Laer, 2004, DFNA5: hearing impairment exon instead of hearing impairment gene?, J. Med. Genet., 41, 401, 10.1136/jmg.2003.015073 Yu, 2003, A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family, Genomics, 82, 575, 10.1016/S0888-7543(03)00175-7 Pennings, 2002, From gene to disease; mutations in the WFS1-gene as the cause of juvenile type I diabetes mellitus with optic atrophy (Wolfram syndrome), Ned. Tijdschr. Geneeskd., 146, 985 Verhoeven, 1998, Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment, Nat. Genet., 19, 60, 10.1038/ng0598-60 Bom, 2003, Cross-sectional analysis of hearing threshold in relation to age in a large family with cochleovestibular impairment thoroughly genotyped for DFNA9/COCH, Ann. Otol. Rhinol. Laryngol., 112, 280, 10.1177/000348940311200316 Pfister, 2002, A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10, Mol. Med., 8, 607, 10.1007/BF03402171 Weiss, 2003, The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity, Mol. Cell. Biol., 23, 7957, 10.1128/MCB.23.22.7957-7964.2003 Astuto, 2002, Searching for evidence of DFNB2, Am. J. Med. Genet., 109, 291, 10.1002/ajmg.10384 Luijendijk, 2004, Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11), Hum. Genet., 115, 149, 10.1007/s00439-004-1137-3 McGuirt, 1999, Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13), Nat. Genet., 23, 413, 10.1038/70516 Fukushima, 1999, A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, FNA16, maps to chromosome 2q23–24.3, Am. J. Hum. Genet., 65, 141, 10.1086/302461 Lalwani, 2000, Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9, Am. J. Hum. Genet., 67, 1121, 10.1016/S0002-9297(07)62942-5 Bonsch, 2001, A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus, Eur. J. Hum. Genet., 9, 165, 10.1038/sj.ejhg.5200612 G. Van Camp, R. Smith, The hereditary hearing loss homepage, http://www.uia.ac.be/dnalab/hhh. Kemperman, 2004, A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment, Arch. Otolaryngol. Head Neck Surg., 130, 281, 10.1001/archotol.130.3.281 DeWan, 2003, A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval, Clin. Genet., 63, 39, 10.1034/j.1399-0004.2003.630106.x Huygen, 2002, Clinical presentation of the DFNA loci where causative genes have not yet been cloned. DFNA4, DFNA6/14, DFNA7, DFNA16, DFNA20 and DFNA21, Adv. Otorhinolaryngol., 61, 98 Kunst, 2000, Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21), Clin. Otolaryngol., 25, 45, 10.1046/j.1365-2273.2000.00327.x Ahmed, 2003, Mutations of MYO6 are associated with recessive deafness, DFNB37, Am. J. Hum. Genet., 72, 1315, 10.1086/375122 Melchionda, 2001, MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss, Am. J. Hum. Genet., 69, 635, 10.1086/323156 Salam, 2000, A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21–q22 in a Swiss German kindred, Am. J. Hum. Genet., 66, 1984, 10.1086/302931 Hafner, 2000, A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred, Am. J. Hum. Genet., 66, 1437, 10.1086/302865 Greene, 2001, DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21–24, Am. J. Hum. Genet., 68, 254, 10.1086/316925 Petek, 2003, Molecular characterization of a 12q22–q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus, Am. J. Med. Genet., 117A, 122, 10.1002/ajmg.a.10155 Thirlwall, 2003, Phenotypic characterization of hereditary hearing impairment linked to DFNA25, Arch. Otolaryngol. Head Neck Surg., 129, 830, 10.1001/archotol.129.8.830 Mangino, 2001, Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25–26, Eur. J. Hum. Genet., 9, 667, 10.1038/sj.ejhg.5200707 Snoeckx, 2004, A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3, J. Med. Genet., 41, 11, 10.1136/jmg.2003.010702 Masmoudi, 2003, Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3–22.1, Eur. J. Hum. Genet., 11, 185, 10.1038/sj.ejhg.5200934 Blanton, 2002, A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter, J. Med. Genet., 39, 567, 10.1136/jmg.39.8.567 Xia, 2002, A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1–32 in a Chinese pedigree, J. Hum. Genet., 47, 635, 10.1007/s100380200098 Flex, 2003, Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12, J. Med. Genet., 40, 278, 10.1136/jmg.40.4.278 Modamio-Hoybjor, 2003, A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28–29, Hum. Genet., 112, 24, 10.1007/s00439-002-0836-x D’Adamo, 2003, A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21–22 in a large Italian family, Eur. J. Hum. Genet., 11, 121, 10.1038/sj.ejhg.5200929 D’Adamo, 2003, A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13–q14 in a large Italian family, Hum. Genet., 112, 319, 10.1007/s00439-002-0880-6 Moreno-Pelayo, 2003, DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21–q23, J. Med. Genet., 40, 832, 10.1136/jmg.40.11.832 Modamio-Hoybjor, 2004, A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci, J. Med. Genet., 41, e14, 10.1136/jmg.2003.012500 Duzcan, 2003, Family history, clinical features, and molecular characterization of a patient with autosomal recessive non-syndromic hearing loss, Kulak Burun Bogaz Ihtis Derg, 11, 85 Gunther, 2003, The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria, Hum. Mutat., 22, 180, 10.1002/humu.9167 Prasad, 2004, Pendred syndrome and FNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations, Am. J. Med. Genet., 124A, 1, 10.1002/ajmg.a.20272 Riazuddin, 2000, Dominant modifier DFNM1 suppresses recessive deafness DFNB26, Nat. Genet., 26, 431, 10.1038/82558 Fukushima, 2000, Sensorineural hearing impairment, non-syndromic: DFNB5, 6, 7. Homozygosity mapping to localize genes causing autosomal recessive non-syndromic hearing loss, Adv. Otorhinolaryngol., 56, 152, 10.1159/000059103 Fukushima, 1995, An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6, Genome Res., 5, 305, 10.1101/gr.5.3.305 Mitchem, 2002, Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6, Hum. Mol. Genet., 11, 1887, 10.1093/hmg/11.16.1887 Scott, 2000, Refining the DFNB7–DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2, Gene, 246, 265, 10.1016/S0378-1119(00)00090-1 Vreugde, 2002, Beethoven, a mouse model for dominant, progressive hearing loss DFNA36, Nat. Genet., 30, 257, 10.1038/ng848 Mirghomizadeh, 2002, Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness, Neurobiol. Dis., 10, 157, 10.1006/nbdi.2002.0488 Yasunaga, 1999, A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness, Nat. Genet., 21, 363, 10.1038/7693 Yasunaga, 2000, OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9, Am. J. Hum. Genet., 67, 591, 10.1086/303049 de Brouwer, 2003, Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family, Hum. Genet., 112, 156, 10.1007/s00439-002-0833-0 Mustapha, 1998, Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness, Eur. J. Hum. Genet., 6, 548, 10.1038/sj.ejhg.5200261 Chen, 2001, MYO1F as a candidate gene for nonsyndromic deafness, DFNB15, Arch. Otolaryngol. Head Neck Surg., 127, 921, 10.1001/archotol.127.8.921 Greinwald, 1998, Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31, Am. J. Med. Genet., 78, 107, 10.1002/(SICI)1096-8628(19980630)78:2<107::AID-AJMG2>3.0.CO;2-L Ahmed, 2002, Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC, Hum. Genet., 110, 527, 10.1007/s00439-002-0732-4 Moynihan, 1999, DFNB20: a novel locus for autosomal recessive, non-syndromal sensorineural hearing loss maps to chromosome 11q25-qter, Eur. J. Hum. Genet., 7, 243, 10.1038/sj.ejhg.5200269 Naz, 2003, Distinctive audiometric profile associated with DFNB21 alleles of TECTA, J. Med. Genet., 40, 360, 10.1136/jmg.40.5.360 Ahmed, 2003, PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23, Hum. Mol. Genet., 12, 3215, 10.1093/hmg/ddg358 Pulleyn, 2000, A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23–q31, Eur. J. Hum. Genet., 8, 991, 10.1038/sj.ejhg.5200567 Wilcox, 2001, Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29, Cell, 104, 165, 10.1016/S0092-8674(01)00200-8 Medlej-Hashim, 2002, Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations, Eur. J. Hum. Genet., 10, 391, 10.1038/sj.ejhg.5200813 Ansar, 2003, A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1–14q24.3 in large consanguineous kindred from Pakistan, Eur. J. Hum. Genet., 11, 77, 10.1038/sj.ejhg.5200905 Ansar, 2003, Localization of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB38) to 6q26–q27 in a consanguineous kindred from Pakistan, Hum. Hered., 55, 71, 10.1159/000071813 Wajid, 2003, DFNB39, a recessive form of sensorineural hearing impairment, maps to chromosome 7q11.22–q21.12, Eur. J. Hum. Genet., 11, 812, 10.1038/sj.ejhg.5201041 Delmaghani, 2003, DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21–12.1, Eur. J. Hum. Genet., 11, 816, 10.1038/sj.ejhg.5201045 Manolis, 1999, Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21, Am. J. Otol., 20, 621 Cui, 2004, Refinement of the locus for non-syndromic sensorineural deafness (DFN2), J. Genet., 83, 35, 10.1007/BF02715827 Tyson, 1996, Mapping of DFN2 to Xq22, Hum. Mol. Genet., 5, 2055, 10.1093/hmg/5.12.2055 Minowa, 1999, Altered cochlear fibrocytes in a mouse model of DFN3 nonsyndromic deafness, Science, 285, 1408, 10.1126/science.285.5432.1408 Pfister, 1998, A second family with nonsyndromic sensorineural hearing loss linked to Xp21.2: refinement of the DFN4 locus within DMD, Genomics, 53, 377, 10.1006/geno.1998.5538 Montini, 1998, Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region, Genomics, 51, 427, 10.1006/geno.1998.5391 Liu, 2000, Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss, Hum. Mol. Genet., 9, 63, 10.1093/hmg/9.1.63 Baris, 2003, Multiplex detection of common mutations in the Connexin-26 gene, Genet. Test., 7, 63, 10.1089/109065703321560967 Griffith, 2000, Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT, Am. J. Hum. Genet., 67, 745, 10.1086/303045 Moraes, 1993, Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?, J. Clin. Invest., 92, 2906, 10.1172/JCI116913 Crimi, 2003, A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness, Neurology, 60, 1200, 10.1212/01.WNL.0000055865.30580.39 Jaksch, 1998, Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene, Ann. Neurol., 44, 635, 10.1002/ana.410440409 Ceranic, 2004, Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy, J. Neurol. Neurosurg. Psychiatry, 75, 626, 10.1136/jnnp.2003.017673 Li, 2004, Cosegregation of C-insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss, Am. J. Med. Genet., 124A, 113, 10.1002/ajmg.a.20305 Chapiro, 2002, Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor, Eur. J. Hum. Genet., 10, 851, 10.1038/sj.ejhg.5200894 Sue, 1999, Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene, Neurology, 52, 905, 10.1212/WNL.52.9.1905