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Volumn 124, Issue 1_suppl, 2015, Pages 158S-168S

Mutations in the MYO15A Gene Are a Significant Cause of Nonsyndromic Hearing Loss: Massively Parallel DNA Sequencing-Based Analysis

Author keywords

autosomal recessive hearing loss; cochlear implant; DFNB3; massively parallel DNA sequencing; MYO15A; next generation sequencing

Indexed keywords

DNA; MYOSIN; MYOSIN 15A; UNCLASSIFIED DRUG; MYO15A PROTEIN, HUMAN;

EID: 84939435949     PISSN: 00034894     EISSN: None     Source Type: Journal    
DOI: 10.1177/0003489415575058     Document Type: Article
Times cited : (46)

References (37)
  • 1
    • 84973471115 scopus 로고    scopus 로고
    • Hereditary Hearing Loss Homepage. Updated May 19, 2014. Accessed December 12, 2014
    • Hereditary Hearing Loss Homepage. http://hereditaryhearingloss.org/. Updated May 19, 2014. Accessed December 12, 2014.
  • 2
    • 24044500344 scopus 로고    scopus 로고
    • Myosins: Tails (and heads) of functional diversity
    • Krendel M, Mooseker MS,. Myosins: tails (and heads) of functional diversity. Physiology. 2005; 20: 239-251.
    • (2005) Physiology , vol.20 , pp. 239-251
    • Krendel, M.1    Mooseker, M.S.2
  • 4
    • 84871009580 scopus 로고    scopus 로고
    • Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss
    • Diaz-Horta O, Duman D, Foster J II, et al. Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. PLoS One. 2012; 7 (11): e50628.
    • (2012) PLoS One , vol.7 , Issue.11 , pp. e50628
    • Diaz-Horta, O.1    Duman, D.2    Foster, I.I.J.3
  • 5
    • 84864151320 scopus 로고    scopus 로고
    • Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population
    • Fattahi Z, Shearer AE, Babanejad M, et al. Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population. Am J Med Genet A. 2012; 158A (8): 1857-1864.
    • (2012) Am J Med Genet A , vol.158 , Issue.8 , pp. 1857-1864
    • Fattahi, Z.1    Shearer, A.E.2    Babanejad, M.3
  • 6
    • 84880184179 scopus 로고    scopus 로고
    • Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families
    • Woo HM, Park HJ, Baek JI, et al. Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families. BMC Med Genet. 2013; 14: 72.
    • (2013) BMC Med Genet , vol.14 , pp. 72
    • Woo, H.M.1    Park, H.J.2    Baek, J.I.3
  • 7
    • 84878895417 scopus 로고    scopus 로고
    • Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing
    • Yang T, Wei X, Chai Y, Li L, Wu H,. Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing. Orphanet J Rare Dis. 2013; 14; 8: 85.
    • (2013) Orphanet J Rare Dis , vol.14 , Issue.8 , pp. 85
    • Yang, T.1    Wei, X.2    Chai, Y.3    Li, L.4    Wu, H.5
  • 8
    • 84885156841 scopus 로고    scopus 로고
    • Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS
    • Miyagawa M, Nishio SY, Ikeda T, Fukushima K, Usami S,. Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS. PLoS One. 2013; 8: e75793.
    • (2013) PLoS One , vol.8 , pp. e75793
    • Miyagawa, M.1    Nishio, S.Y.2    Ikeda, T.3    Fukushima, K.4    Usami, S.5
  • 9
    • 84864294140 scopus 로고    scopus 로고
    • ANNOVAR; Annotating genetic variants for personal genomes via the web
    • Chang X, Wang K,. ANNOVAR; annotating genetic variants for personal genomes via the web. J Med Genet. 2012; 49: 433-436.
    • (2012) J Med Genet , vol.49 , pp. 433-436
    • Chang, X.1    Wang, K.2
  • 10
    • 77956534324 scopus 로고    scopus 로고
    • ANNOVAR: Functional annotation of genetic variation from high-throughput sequencing data
    • Wang K, Li M, Hakonarson H,. ANNOVAR: functional annotation of genetic variation from high-throughput sequencing data. Nucleic Acid Res. 2010; 38: e164.
    • (2010) Nucleic Acid Res , vol.38 , pp. e164
    • Wang, K.1    Li, M.2    Hakonarson, H.3
  • 11
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1,092 human genomes
    • Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012; 491 (7422): 56-65.
    • (2012) Nature , vol.491 , Issue.7422 , pp. 56-65
    • Abecasis, G.R.1    Auton, A.2    Brooks, L.D.3
  • 12
    • 84973446897 scopus 로고    scopus 로고
    • NHLBI Exome Sequencing Project (ESP) Exome Variant Server. Accessed February 10, 2015
    • NHLBI Exome Sequencing Project (ESP) Exome Variant Server. http://evs.gs.washington.edu/EVS/. Accessed February 10, 2015.
  • 13
    • 84903538948 scopus 로고    scopus 로고
    • Large-scale East-Asian eQTL mapping reveals novel candidate genes for LD mapping and the genomic landscape of transcriptional effects of sequence variants
    • Narahara M, Higasa K, Nakamura S, et al. Large-scale East-Asian eQTL mapping reveals novel candidate genes for LD mapping and the genomic landscape of transcriptional effects of sequence variants. PLoS One. 2014; 9 (6): e100924.
    • (2014) PLoS One , vol.9 , Issue.6 , pp. e100924
    • Narahara, M.1    Higasa, K.2    Nakamura, S.3
  • 14
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC,. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009; 4 (7): 1073-1081.
    • (2009) Nat Protoc , vol.4 , Issue.7 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 15
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010; 7 (4): 248-249.
    • (2010) Nat Methods , vol.7 , Issue.4 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3
  • 16
    • 77955151784 scopus 로고    scopus 로고
    • MutationTaster evaluates disease-causing potential of sequence alterations
    • Schwarz JM, Rodelsperger C, Schuelke M, et al. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010; 7 (8): 575-576.
    • (2010) Nat Methods , vol.7 , Issue.8 , pp. 575-576
    • Schwarz, J.M.1    Rodelsperger, C.2    Schuelke, M.3
  • 17
    • 80053189298 scopus 로고    scopus 로고
    • Predicting the functional impact of protein mutations: Application to cancer genomics
    • Reva B, Antipin Y, Sander C,. Predicting the functional impact of protein mutations: application to cancer genomics. Nucleic Acids Res. 2011; 39 (17): e118.
    • (2011) Nucleic Acids Res , vol.39 , Issue.17 , pp. e118
    • Reva, B.1    Antipin, Y.2    Sander, C.3
  • 18
    • 84871578629 scopus 로고    scopus 로고
    • Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models
    • Shihab HA, Gough J, Cooper DN, et al. Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. Hum Mutat. 2013; 34 (1): 57-65.
    • (2013) Hum Mutat , vol.34 , Issue.1 , pp. 57-65
    • Shihab, H.A.1    Gough, J.2    Cooper, D.N.3
  • 19
    • 22244452677 scopus 로고    scopus 로고
    • Distribution and intensity of constraint in mammalian genomic sequence
    • Cooper GM, Stone EA, Asimenos G, et al. Distribution and intensity of constraint in mammalian genomic sequence. Genome Res. 2005; 15 (7): 901-913.
    • (2005) Genome Res , vol.15 , Issue.7 , pp. 901-913
    • Cooper, G.M.1    Stone, E.A.2    Asimenos, G.3
  • 20
    • 0035188190 scopus 로고    scopus 로고
    • Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome
    • Liburd N, Ghosh M, Riazuddin S, et al. Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Hum Genet. 2001; 109 (5): 535-541.
    • (2001) Hum Genet , vol.109 , Issue.5 , pp. 535-541
    • Liburd, N.1    Ghosh, M.2    Riazuddin, S.3
  • 21
    • 34948880109 scopus 로고    scopus 로고
    • Mutational spectrum of MYO15A: The large N-terminal extension of myosin XVA is required for hearing
    • Nal N, Ahmed ZM, Erkal E, et al. Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. Hum Mutat. 2007; 28 (10): 1014-1019.
    • (2007) Hum Mutat , vol.28 , Issue.10 , pp. 1014-1019
    • Nal, N.1    Ahmed, Z.M.2    Erkal, E.3
  • 22
    • 65249156445 scopus 로고    scopus 로고
    • Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss
    • Shearer AE, Hildebrand MS, Webster JA, et al. Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss. Laryngoscope. 2009; 119 (4): 727-733.
    • (2009) Laryngoscope , vol.119 , Issue.4 , pp. 727-733
    • Shearer, A.E.1    Hildebrand, M.S.2    Webster, J.A.3
  • 23
    • 84864151320 scopus 로고    scopus 로고
    • Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population
    • Fattahi Z, Shearer AE, Babanejad M, et al. Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population. Am J Med Genet A. 2012; 158A (8): 1857-1864.
    • (2012) Am J Med Genet A , vol.158 , Issue.8 , pp. 1857-1864
    • Fattahi, Z.1    Shearer, A.E.2    Babanejad, M.3
  • 24
    • 84857532404 scopus 로고    scopus 로고
    • Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: A multicenter study
    • Deafness Gene Study Consortium
    • Usami S, Nishio SY, Nagano M, Abe S, Yamaguchi T, Deafness Gene Study Consortium. Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study. PLoS One. 2012; 7 (2): e31276.
    • (2012) PLoS One , vol.7 , Issue.2 , pp. e31276
    • Usami, S.1    Nishio, S.Y.2    Nagano, M.3    Abe, S.4    Yamaguchi, T.5
  • 25
    • 34548563845 scopus 로고    scopus 로고
    • Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss
    • Wagatsuma M, Kitoh R, Suzuki H, Fukuoka H, Takumi Y, Usami S,. Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss. Clin Genet. 2007; 72 (4): 339-344.
    • (2007) Clin Genet , vol.72 , Issue.4 , pp. 339-344
    • Wagatsuma, M.1    Kitoh, R.2    Suzuki, H.3    Fukuoka, H.4    Takumi, Y.5    Usami, S.6
  • 26
    • 84921731671 scopus 로고    scopus 로고
    • Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants
    • Shearer AE, Eppsteiner RW, Booth KT, et al. Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. Am J Hum Genet. 2014; 95 (4): 445-453.
    • (2014) Am J Hum Genet , vol.95 , Issue.4 , pp. 445-453
    • Shearer, A.E.1    Eppsteiner, R.W.2    Booth, K.T.3
  • 27
    • 0031204173 scopus 로고    scopus 로고
    • The future of cochlear implants
    • Wilson BS,. The future of cochlear implants. Br J Audiol. 1997; 31 (4): 205-225.
    • (1997) Br J Audiol , vol.31 , Issue.4 , pp. 205-225
    • Wilson, B.S.1
  • 28
    • 17644442703 scopus 로고    scopus 로고
    • Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene
    • 5368
    • Probst FJ, Fridell RA, Raphael Y, et al. Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. Science. 1998; 29;280 (5368): 1444-1447.
    • (1998) Science , vol.29 , Issue.280 , pp. 1444-1447
    • Probst, F.J.1    Fridell, R.A.2    Raphael, Y.3
  • 29
    • 80052869041 scopus 로고    scopus 로고
    • Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families
    • Brownstein Z, Friedman LM, Shahin H, et al. Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol. 2011; 12 (9): R89.
    • (2011) Genome Biol , vol.12 , Issue.9 , pp. R89
    • Brownstein, Z.1    Friedman, L.M.2    Shahin, H.3
  • 30
    • 77955855341 scopus 로고    scopus 로고
    • Recurrent and private MYO15A mutations are associated with deafness in the Turkish population
    • Cengiz FB, Duman D, Sirmaci A, et al. Recurrent and private MYO15A mutations are associated with deafness in the Turkish population. Genet Test Mol Biomarkers. 2010; 14 (4): 543-550.
    • (2010) Genet Test Mol Biomarkers , vol.14 , Issue.4 , pp. 543-550
    • Cengiz, F.B.1    Duman, D.2    Sirmaci, A.3
  • 31
    • 79959784947 scopus 로고    scopus 로고
    • A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population
    • Imtiaz F, Taibah K, Ramzan K, et al. A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population. BMC Med Genet. 2011; 12: 91.
    • (2011) BMC Med Genet , vol.12 , pp. 91
    • Imtiaz, F.1    Taibah, K.2    Ramzan, K.3
  • 32
    • 84857441955 scopus 로고    scopus 로고
    • Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss
    • Bashir R, Fatima A, Naz S,. Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss. Eur J Med Genet. 2012; 55 (2): 99-102.
    • (2012) Eur J Med Genet , vol.55 , Issue.2 , pp. 99-102
    • Bashir, R.1    Fatima, A.2    Naz, S.3
  • 33
    • 67049160269 scopus 로고    scopus 로고
    • Screening of the DFNB3 locus: Identification of three novel mutations of MYO15A associated with hearing loss and further suggestion for two distinctive genes on this locus
    • Belguith H, Aifa-Hmani M, Dhouib H, et al. Screening of the DFNB3 locus: identification of three novel mutations of MYO15A associated with hearing loss and further suggestion for two distinctive genes on this locus. Genet Test Mol Biomarkers. 2009; 13 (1): 147-151.
    • (2009) Genet Test Mol Biomarkers , vol.13 , Issue.1 , pp. 147-151
    • Belguith, H.1    Aifa-Hmani, M.2    Dhouib, H.3
  • 34
    • 34848929025 scopus 로고    scopus 로고
    • MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation
    • Kalay E, Uzumcu A, Krieger E, et al. MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. Am J Med Genet A. 2007; 143A (20): 2382-2389.
    • (2007) Am J Med Genet A , vol.143 , Issue.20 , pp. 2382-2389
    • Kalay, E.1    Uzumcu, A.2    Krieger, E.3
  • 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,. Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey. Genet Test Mol Biomarkers. 2011; 15 (1-2): 29-33.
    • (2011) Genet Test Mol Biomarkers , vol.15 , Issue.1-2 , pp. 29-33
    • Duman, D.1    Sirmaci, A.2    Cengiz, F.B.3    Ozdag, H.4    Tekin, M.5
  • 36
    • 0032577293 scopus 로고    scopus 로고
    • Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3
    • Wang A, Liang Y, Fridell RA, et al. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science. 1998; 280 (5368): 1447-1451.
    • (1998) Science , vol.280 , Issue.5368 , pp. 1447-1451
    • Wang, A.1    Liang, Y.2    Fridell, R.A.3
  • 37
    • 37249080135 scopus 로고    scopus 로고
    • Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness
    • Lezirovitz K, Pardono E, de Mello Auricchio MT, et al. Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness. Eur J Hum Genet. 2008; 16 (1): 89-96.
    • (2008) Eur J Hum Genet , vol.16 , Issue.1 , pp. 89-96
    • Lezirovitz, K.1    Pardono, E.2    De Mello Auricchio, M.T.3


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