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Volumn 9, Issue 1, 2014, Pages

Non-syndromic hearing impairment in India: High allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE NON SYNDROMIC HEARING LOSS; CDH23 GENE; CONTROLLED STUDY; EXON; FAMILY ASSESSMENT; GENE; GENE MUTATION; GENETIC EPIDEMIOLOGY; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; GENETIC VARIABILITY; HEARING IMPAIRMENT; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INDIA; INTRON; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; TMC1 GENE; TMIE GENE; TMPRSS3 GENE; USHIC GENE;

EID: 84897063081     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0084773     Document Type: Article
Times cited : (51)

References (45)
  • 1
    • 0026410464 scopus 로고
    • Genetic epidemiology of hearing impairment
    • Morton NE (1991) Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 630: 16-31.
    • (1991) Ann N Y Acad Sci , vol.630 , pp. 16-31
    • Morton, N.E.1
  • 2
    • 42649127764 scopus 로고    scopus 로고
    • Cochlear molecules and hereditary deafness
    • Yan D, Liu XZ (2008) Cochlear molecules and hereditary deafness. Front Biosci 13: 4972-4983.
    • (2008) Front Biosci , vol.13 , pp. 4972-4983
    • Yan, D.1    Liu, X.Z.2
  • 3
    • 0035167046 scopus 로고    scopus 로고
    • Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness
    • Scott HS, Kudoh J, Wattenhofer M, Shibuya K, Berry A, et al. (2001) Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nat Genet 27: 59-63.
    • (2001) Nat Genet , vol.27 , pp. 59-63
    • Scott, H.S.1    Kudoh, J.2    Wattenhofer, M.3    Shibuya, K.4    Berry, A.5
  • 4
    • 0036510053 scopus 로고    scopus 로고
    • Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function
    • Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, et al. (2002) Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet 30: 277-284.
    • (2002) Nat Genet , vol.30 , pp. 277-284
    • Kurima, K.1    Peters, L.M.2    Yang, Y.3    Riazuddin, S.4    Ahmed, Z.M.5
  • 5
    • 0033816925 scopus 로고    scopus 로고
    • A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
    • Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, et al. (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.
    • (2000) Nat Genet , vol.26 , pp. 51-55
    • Verpy, E.1    Leibovici, M.2    Zwaenepoel, I.3    Liu, X.Z.4    Gal, A.5
  • 6
    • 0035158639 scopus 로고    scopus 로고
    • Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
    • Bolz H, von Brederlow B, Ramirez A, Bryda EC, Kutsche K, et al. (2001) Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet 27: 108-112.
    • (2001) Nat Genet , vol.27 , pp. 108-112
    • Bolz, H.1    Von Brederlow, B.2    Ramirez, A.3    Bryda, E.C.4    Kutsche, K.5
  • 7
    • 0036724557 scopus 로고    scopus 로고
    • Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus
    • Naz S, Giguere CM, Kohrman DC, Mitchem KL, Riazuddin S, et al. (2002) Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. Am J Hum Genet 71: 632-636.
    • (2002) Am J Hum Genet , vol.71 , pp. 632-636
    • Naz, S.1    Giguere, C.M.2    Kohrman, D.C.3    Mitchem, K.L.4    Riazuddin, S.5
  • 10
    • 0033990048 scopus 로고    scopus 로고
    • Primer 3 on the WWW for general users and for biologist programmers
    • Rozen S, Skaletsky HJ (2000) Primer3 on the WWW for general users and for biologist programmers. In: Krawertz S, Misener S Bioinformatics Methods and Protocols: Methods in Molecular Biology, New Jersey: Humana Press pp. 365-386.
    • (2000) Methods Mol Biol , vol.132 , pp. 365-386
    • Rozen, S.1    Skaletsky, H.2
  • 11
    • 0027968068 scopus 로고
    • CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignments through sequence weighting, position specific gap penalties and weight matrix choice
    • Thompson JD, Higgins DG, Gibson TJ (1994) CLUSTAL W: improving the sensitivity of progressive multiple sequence alignments through sequence weighting, position specific gap penalties and weight matrix choice. Nucleic Acids Res 22: 4673-4680.
    • (1994) Nucleic Acids Res , vol.22 , pp. 4673-4680
    • Thompson, J.D.1    Higgins, D.G.2    Gibson, T.J.3
  • 12
    • 3042681902 scopus 로고    scopus 로고
    • ConSeq: The Identification of Functionally and Structurally Important Residues in Protein Sequences
    • Berezin C, Glaser F, Rosenberg Y, Paz I, Pupko T, et al. (2004) ConSeq: The Identification of Functionally and Structurally Important Residues in Protein Sequences. Bioinformatics 20: 1322-1324.
    • (2004) Bioinformatics , vol.20 , pp. 1322-1324
    • Berezin, C.1    Glaser, F.2    Rosenberg, Y.3    Paz, I.4    Pupko, T.5
  • 13
    • 0029791403 scopus 로고
    • Splice site prediction in Arabidopsis thaliana DNA by combining local and global sequence information
    • Hebsgaard SM, Korning PG, Tolstrup N, Engelbrecht J, Rouze P, et al. (1994) Splice site prediction in Arabidopsis thaliana DNA by combining local and global sequence information. Nucleic Acids Res 24: 3439-3452.
    • (1994) Nucleic Acids Res , vol.24 , pp. 3439-3452
    • Hebsgaard, S.M.1    Korning, P.G.2    Tolstrup, N.3    Engelbrecht, J.4    Rouze, P.5
  • 14
    • 33747866099 scopus 로고    scopus 로고
    • DISULFIND: A Disulfide Bonding State and Cysteine Connectivity Prediction Server
    • Ceroni A, Passerini A, Vullo A, Frasconi P (2001) DISULFIND: A Disulfide Bonding State and Cysteine Connectivity Prediction Server. Nucleic Acids Res 34: W177-W181.
    • (2001) Nucleic Acids Res , vol.34
    • Ceroni, A.1    Passerini, A.2    Vullo, A.3    Frasconi, P.4
  • 15
    • 0035026704 scopus 로고    scopus 로고
    • Predicting deleterious amino acid substitutions
    • DOI 101101/gr176601
    • Ng PC, Henikoff S (2001) Predicting deleterious amino acid substitutions. Genome Res 11:863-874.
    • (2001) Genome Research , vol.11 , Issue.5 , pp. 863-874
    • Ng, P.C.1    Henikoff, S.2
  • 17
    • 21244448682 scopus 로고    scopus 로고
    • Hepatocyte growth factor is a preferred in vitro substrate for human hepsin, a membrane-anchored serine protease implicated in prostate and ovarian cancers
    • Herter S, Piper DE, Aaron W, Gabriele T, Cutler G, et al. (2005) Hepatocyte growth factor is a preferred in vitro substrate for human hepsin, a membrane-anchored serine protease implicated in prostate and ovarian cancers. Biochem J 390: 125-136.
    • (2005) Biochem J , vol.390 , pp. 125-136
    • Herter, S.1    Piper, D.E.2    Aaron, W.3    Gabriele, T.4    Cutler, G.5
  • 18
    • 38449107595 scopus 로고    scopus 로고
    • TMPRSS3, a type II transmembrane serine protease mutated in nonsyndromicautosomal recessive deafness
    • Guipponi M, Antonarakis SE, Scott HS (2008) TMPRSS3, a type II transmembrane serine protease mutated in nonsyndromicautosomal recessive deafness. Front Biosc 13: 1557-1567.
    • (2008) Front Biosc , vol.13 , pp. 1557-1567
    • Guipponi, M.1    Antonarakis, S.E.2    Scott, H.S.3
  • 19
    • 0034625313 scopus 로고    scopus 로고
    • Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members
    • Nollet F, Kools P, van Roy F (2009) Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members. J Mol Biol 299: 551-572.
    • (2009) J Mol Biol , vol.299 , pp. 551-572
    • Nollet, F.1    Kools, P.2    Van Roy, F.3
  • 20
    • 0036626684 scopus 로고    scopus 로고
    • Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC
    • Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, et al. (2002) Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. Hum Genet 110: 527-531.
    • (2002) Hum Genet , vol.110 , pp. 527-531
    • Ahmed, Z.M.1    Smith, T.N.2    Riazuddin, S.3    Makishima, T.4    Ghosh, M.5
  • 21
    • 0028815440 scopus 로고
    • Defective myosin VIIA gene responsible for Usher syndrome type 1B
    • Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, et al. (1995) Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature. 374: 60-61.
    • (1995) Nature , vol.374 , pp. 60-61
    • Weil, D.1    Blanchard, S.2    Kaplan, J.3    Guilford, P.4    Gibson, F.5
  • 22
    • 0037341463 scopus 로고    scopus 로고
    • Usher syndrome type IG (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
    • Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, et al. (2003) Usher syndrome type IG (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet. 12: 463-471.
    • (2003) Hum Mol Genet , vol.12 , pp. 463-471
    • Weil, D.1    El-Amraoui, A.2    Masmoudi, S.3    Mustapha, M.4    Kikkawa, Y.5
  • 23
    • 36248940280 scopus 로고    scopus 로고
    • Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11deafness in Pakistan
    • Kitajiri S, McNamara R, Makishima T, Husnain T, Zafar AU, et al. (2007) Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11deafness in Pakistan. Clin Genet 72: 546-550.
    • (2007) Clin Genet , vol.72 , pp. 546-550
    • Kitajiri, S.1    McNamara, R.2    Makishima, T.3    Husnain, T.4    Zafar, A.U.5
  • 24
    • 77954912153 scopus 로고    scopus 로고
    • High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects
    • Ben Saïd M, Hmani-Aifa M, Amar I, Baig SM, Mustapha M, et al. (2010) High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects. Genet. Test Mol Biomarkers. 14: 307-300.
    • (2010) Genet. Test Mol Biomarkers , vol.14 , pp. 307-1300
    • Ben Saïd, M.1    Hmani-Aifa, M.2    Amar, I.3    Baig, S.M.4    Mustapha, M.5
  • 25
    • 0035038207 scopus 로고    scopus 로고
    • Polypyrimidine tract binding protein antagonizes exon definition
    • Wagner EJ, Garcia-Blanco MA (2001) Polypyrimidine tract binding protein antagonizes exon definition. Mol Cell Biol 21: 3281-3288.
    • (2001) Mol Cell Biol , vol.21 , pp. 3281-3288
    • Wagner, E.J.1    Garcia-Blanco, M.A.2
  • 26
    • 33344464081 scopus 로고    scopus 로고
    • Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment
    • Santos RL, Wajid M, Khan MN, McArthur N, Pham TL, et al. (2005) Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment. Hum Mutat 26: 396-404.
    • (2005) Hum Mutat , vol.26 , pp. 396-404
    • Santos, R.L.1    Wajid, M.2    Khan, M.N.3    McArthur, N.4    Pham, T.L.5
  • 27
    • 63349110148 scopus 로고    scopus 로고
    • Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutations
    • Sirmaci A, Duman D, Oztürkmen-Akay H, Erbek S, Incesulu A, et al. (2009) Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations. Int J Pediatr Otorhinolaryngol 73: 699-705.
    • (2009) Int J Pediatr Otorhinolaryngol , vol.73 , pp. 699-705
    • Sirmaci, A.1    Duman, D.2    Oztürkmen-Akay, H.3    Erbek, S.4    Incesulu, A.5
  • 28
    • 0035168168 scopus 로고    scopus 로고
    • Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
    • Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, et al. (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: 26-37.
    • (2001) Am J Hum Genet , vol.68 , pp. 26-37
    • Bork, J.M.1    Peters, L.M.2    Riazuddin, S.3    Bernstein, S.L.4    Ahmed, Z.M.5
  • 29
    • 18444366182 scopus 로고    scopus 로고
    • CDH23 mutation and phenotype heterogeneity: A profile of 107 diverse families with Usher syndrome and nonsyndromic deafness
    • Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, et al. (2002) CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am J Hum Genet 71: 262-275.
    • (2002) Am J Hum Genet , vol.71 , pp. 262-275
    • Astuto, L.M.1    Bork, J.M.2    Weston, M.D.3    Askew, J.W.4    Fields, R.R.5
  • 30
    • 33344474579 scopus 로고    scopus 로고
    • Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment
    • Santos RL, El-Shanti H, Sikandar S, Lee K, Bhatti A, et al. (2006) Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment. J Mol Med 84: 226-231.
    • (2006) J Mol Med , vol.84 , pp. 226-231
    • Santos, R.L.1    El-Shanti, H.2    Sikandar, S.3    Lee, K.4    Bhatti, A.5
  • 31
    • 0036176041 scopus 로고    scopus 로고
    • Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients
    • Wattenhofer M, Di Iorio MV, Rabionet R, Dougherty L, Pampanos A, et al. (2002) Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. J Mol Med 80: 124-131.
    • (2002) J Mol Med , vol.80 , pp. 124-131
    • Wattenhofer, M.1    Di Iorio, M.V.2    Rabionet, R.3    Dougherty, L.4    Pampanos, A.5
  • 32
    • 0034983847 scopus 로고    scopus 로고
    • Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness
    • Ben-Yosef T, Wattenhofer M, Riazuddin S, Ahmed ZM, Scott HS, et al. (2001) Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. J Med Genet 38: 396-400.
    • (2001) J Med Genet , vol.38 , pp. 396-400
    • Ben-Yosef, T.1    Wattenhofer, M.2    Riazuddin, S.3    Ahmed, Z.M.4    Scott, H.S.5
  • 33
    • 26444617226 scopus 로고    scopus 로고
    • Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan
    • Ahmed ZM, Li XC, Powell SD, Riazuddin S, Young TL, et al. (2004) Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. BMC Med Genet 5: 24.
    • (2004) BMC Med Genet , vol.5 , pp. 24
    • Ahmed, Z.M.1    Li, X.C.2    Powell, S.D.3    Riazuddin, S.4    Young, T.L.5
  • 34
    • 84862242742 scopus 로고    scopus 로고
    • Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment
    • Lee K, Khan S, Islam A, Ansar M, Andrade PB, et al. (2012) Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. Clin Genet 82: 56-63.
    • (2012) Clin Genet , vol.82 , pp. 56-63
    • Lee, K.1    Khan, S.2    Islam, A.3    Ansar, M.4    Andrade, P.B.5
  • 35
    • 79951991591 scopus 로고    scopus 로고
    • Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey
    • Duman D, Sirmaci A, Cengiz FB, Ozdag H, Tekin M (2011) Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey Genet Test Mol Biomarkers 15: 29-33.
    • (2011) Genet Test Mol Biomarkers , vol.15 , pp. 29-33
    • Duman, D.1    Sirmaci, A.2    Cengiz, F.B.3    Ozdag, H.4    Tekin, M.5
  • 36
    • 27544455732 scopus 로고    scopus 로고
    • A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein
    • Wattenhofer M, Sahin-Calapoglu N, Andreasen D, Kalay E, Caylan R, et al. (2005) A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. Hum Genet 117: 528-535.
    • (2005) Hum Genet , vol.117 , pp. 528-535
    • Wattenhofer, M.1    Sahin-Calapoglu, N.2    Andreasen, D.3    Kalay, E.4    Caylan, R.5
  • 37
    • 0034910275 scopus 로고    scopus 로고
    • Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with nonsyndromic autosomal recessive deafness
    • Masmoudi S, Antonarakis SE, Schwede T, Ghorbel AM, Gratri M, et al. (2001) Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with nonsyndromic autosomal recessive deafness. Hum Mutat 18: 101-108.
    • (2001) Hum Mutat , vol.18 , pp. 101-108
    • Masmoudi, S.1    Antonarakis, S.E.2    Schwede, T.3    Ghorbel, A.M.4    Gratri, M.5
  • 38
    • 84886745952 scopus 로고    scopus 로고
    • Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss
    • pii: S0378-1119
    • Lee JW, Baek JI, Choi JY, Kim UK, Lee SH, et al. (2013) Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss. Gene pii: S0378-1119.
    • (2013) Gene
    • Lee, J.W.1    Baek, J.I.2    Choi, J.Y.3    Kim, U.K.4    Lee, S.H.5
  • 39
    • 33646139585 scopus 로고    scopus 로고
    • Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss
    • Kalay E, Karaguzel A, Caylan R, Heister A, Cremers FP, et al. (2005) Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss. Hum Mutat 26: 591-598.
    • (2005) Hum Mutat , vol.26 , pp. 591-598
    • Kalay, E.1    Karaguzel, A.2    Caylan, R.3    Heister, A.4    Cremers, F.P.5
  • 40
    • 84876741344 scopus 로고    scopus 로고
    • A transversion mutation in non-coding exon 3 of the TMC1 gene in two ethnically related Iranian deaf families from different geographical regions; evidence for founder effect
    • Davoudi-Dehaghani E, Zeinali S, Mahdieh N, Shirkavand A, Bagherian H, et al. (2013) A transversion mutation in non-coding exon 3 of the TMC1 gene in two ethnically related Iranian deaf families from different geographical regions; evidence for founder effect. Int J Pediatr Otorhinolaryngol 77: 821-826.
    • (2013) Int J Pediatr Otorhinolaryngol , vol.77 , pp. 821-826
    • Davoudi-Dehaghani, E.1    Zeinali, S.2    Mahdieh, N.3    Shirkavand, A.4    Bagherian, H.5
  • 41
    • 0036664454 scopus 로고    scopus 로고
    • Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness
    • Ouyang XM, Xia XJ, Verpy E, Du LL, Pandya A, et al. (2002) Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. Hum Genet 111: 26-30.
    • (2002) Hum Genet , vol.111 , pp. 26-30
    • Ouyang, X.M.1    Xia, X.J.2    Verpy, E.3    Du, L.L.4    Pandya, A.5
  • 42
    • 0042131743 scopus 로고    scopus 로고
    • The contribution of USH1C mutations to syndromic and non- syndromic deafness in the UK
    • Blaydon DC, Mueller RF, Hutchin TP, Leroy BP, Bhattacharya SS, et al. (2003) The contribution of USH1C mutations to syndromic and non- syndromic deafness in the UK. Clin Genet 63: 303-307.
    • (2003) Clin Genet , vol.63 , pp. 303-307
    • Blaydon, D.C.1    Mueller, R.F.2    Hutchin, T.P.3    Leroy, B.P.4    Bhattacharya, S.S.5
  • 43
    • 34548563845 scopus 로고    scopus 로고
    • Distribution and frequencies of CDH23 mutations in Japanese patients with nonsyndromic hearing loss
    • Wagatsuma M, Kitoh R, Suzuki H, Fukuoka H, Takumi Y, et al. (2007) Distribution and frequencies of CDH23 mutations in Japanese patients with nonsyndromic hearing loss. Clin Genet 72: 339-344.
    • (2007) Clin Genet , vol.72 , pp. 339-344
    • Wagatsuma, M.1    Kitoh, R.2    Suzuki, H.3    Fukuoka, H.4    Takumi, Y.5
  • 44
    • 84865031797 scopus 로고    scopus 로고
    • Prevalence and clinical features of hearing loss patients with CDH23 mutations: A large cohort study
    • Miyagawa M, Nishio SY, Usami S (2012) Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study. PLoS One 7: e40366.
    • (2012) PLoS One , vol.7
    • Miyagawa, M.1    Nishio, S.Y.2    Usami, S.3
  • 45
    • 77951645948 scopus 로고    scopus 로고
    • Identification of novel variants in the TMIE gene of patients with nonsyndromic hearing loss
    • Yang JJ, Su MC, Chien KH, Hsin CH, Li SY (2010) Identification of novel variants in the TMIE gene of patients with nonsyndromic hearing loss. Int J Pediatr Otorhinolaryngol. 74: 489-493.
    • (2010) Int J Pediatr Otorhinolaryngol , vol.74 , pp. 489-493
    • Yang, J.J.1    Su, M.C.2    Chien, K.H.3    Hsin, C.H.4    Li, S.Y.5


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