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Volumn 17, Issue 8, 2013, Pages 581-587

Next-generation sequencing in genetic hearing loss

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID TRANSFER RNA LIGASE; DNA; DNA METHYLTRANSFERASE 1; HISTIDINE TRANSFER RNA LIGASE; INTEGRIN; PROLINE RICH PROTEIN; PURINERGIC P2X2 RECEPTOR; TESTOSTERONE 17BETA DEHYDROGENASE;

EID: 84881179551     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2012.0464     Document Type: Review
Times cited : (37)

References (46)
  • 1
    • 0037373275 scopus 로고    scopus 로고
    • Discovering genotypes underlying human phenotypes: Past successes for Mendelian disease, future approaches for complex disease
    • Botstein D, Risch N (2003) Discovering genotypes underlying human phenotypes: past successes for Mendelian disease, future approaches for complex disease. Nat Genet 33:228-237.
    • (2003) Nat Genet , vol.33 , pp. 228-237
    • Botstein, D.1    Risch, N.2
  • 2
    • 0029031729 scopus 로고
    • Linkage of a gene for dominant non-syndromic deafness to chromosome 19
    • Chen AH, Ni L, Fukushima K, et al. (1995) Linkage of a gene for dominant non-syndromic deafness to chromosome 19. Hum Mol Genet 4:1073e1076.
    • (1995) Hum Mol Genet , vol.4 , pp. 1073-1076
    • Chen, A.H.1    Ni, L.2    Fukushima, K.3
  • 3
    • 73149123343 scopus 로고    scopus 로고
    • Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
    • Choi M, Scholl, UI, Ji W, et al. (2009) Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A 106:19096-19101.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 19096-19101
    • Choi, M.1    Scholl, U.I.2    Ji, W.3
  • 4
    • 0028988233 scopus 로고
    • Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
    • de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, et al. (1995) Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 267:685-688.
    • (1995) Science , vol.267 , pp. 685-688
    • De Kok, Y.J.1    Van Der Maarel, S.M.2    Bitner-Glindzicz, M.3
  • 5
    • 12144286156 scopus 로고    scopus 로고
    • Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)
    • Donaudy F, Snoeckx R, Pfister M, et al. (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 74:770-776.
    • (2004) Am J Hum Genet , vol.74 , pp. 770-776
    • Donaudy, F.1    Snoeckx, R.2    Pfister, M.3
  • 6
    • 0032975707 scopus 로고    scopus 로고
    • Unique multifunctional HSD17B4 gene product: 17b-hydroxysteroid dehydrogenase 4 and D-3-hydroxyacyl-coenzyme A dehydrogenase:hydratase involved in Zellweger syndrome
    • de Launoit Y, Adamski J (1999) Unique multifunctional HSD17B4 gene product: 17b-hydroxysteroid dehydrogenase 4 and D-3-hydroxyacyl-coenzyme A dehydrogenase:hydratase involved in Zellweger syndrome. J Mol Endocrinol 22: 227-240.
    • (1999) J Mol Endocrinol , vol.22 , pp. 227-240
    • De Launoit, Y.1    Adamski, J.2
  • 7
    • 59849113821 scopus 로고    scopus 로고
    • Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
    • Gnirke A, Melnikov A, Maguire J, et al. (2009) Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol 27:182-189.
    • (2009) Nat Biotechnol , vol.27 , pp. 182-189
    • Gnirke, A.1    Melnikov, A.2    Maguire, J.3
  • 8
    • 79955852297 scopus 로고    scopus 로고
    • Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss
    • Huebner AK, Gandia M, Frommolt P, et al. (2011) Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss. Am J Hum Genet 88:621-627.
    • (2011) Am J Hum Genet , vol.88 , pp. 621-627
    • Huebner, A.K.1    Gandia, M.2    Frommolt, P.3
  • 9
    • 33947615160 scopus 로고    scopus 로고
    • Identification of phostensin, a PP1 F-actin cytoskeleton targeting subunit
    • Kao SC, Chen CY, Wang SL, et al. (2007) Identification of phostensin, a PP1 F-actin cytoskeleton targeting subunit. Biochem Biophys Res Commun 356:94-598.
    • (2007) Biochem Biophys Res Commun , vol.356 , pp. 94-598
    • Kao, S.C.1    Chen, C.Y.2    Wang, S.L.3
  • 10
    • 77449093566 scopus 로고    scopus 로고
    • DFNB79: Reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3
    • Khan SY, Riazuddin S, Shahzad M, et al. (2010) DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. Eur J Hum Genet 18:125-129.
    • (2010) Eur J Hum Genet , vol.18 , pp. 125-129
    • Khan, S.Y.1    Riazuddin, S.2    Shahzad, M.3
  • 11
    • 79957623760 scopus 로고    scopus 로고
    • Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss
    • Klein CJ, Botuyan MV, Wu Y, et al. (2011) Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nat Genet 43:595-600.
    • (2011) Nat Genet , vol.43 , pp. 595-600
    • Klein, C.J.1    Botuyan, M.V.2    Wu, Y.3
  • 12
    • 37749022460 scopus 로고    scopus 로고
    • Neuroepithelial progenitors undergo LGN-dependent planar divisions to maintain self-renewability during mammalian neurogenesis
    • Konno D, Shioi G, Shitamukai A, et al. (2008) Neuroepithelial progenitors undergo LGN-dependent planar divisions to maintain self-renewability during mammalian neurogenesis. Nat Cell Biol 10:93-101.
    • (2008) Nat Cell Biol , vol.10 , pp. 93-101
    • Konno, D.1    Shioi, G.2    Shitamukai, A.3
  • 13
    • 68549105869 scopus 로고    scopus 로고
    • Phostensin caps to the pointed end of actin filaments and modulates actin dynamics
    • Lai NS, Wang TF, Wang SL, et al. (2009) Phostensin caps to the pointed end of actin filaments and modulates actin dynamics. Biochem Biophys Res Commun 387:676-681.
    • (2009) Biochem Biophys Res Commun , vol.387 , pp. 676-681
    • Lai, N.S.1    Wang, T.F.2    Wang, S.L.3
  • 14
    • 2042437650 scopus 로고    scopus 로고
    • Initial sequencing and analysis of the human genome
    • Lander ES, Linton LM, Birren B, et al. (2001) Initial sequencing and analysis of the human genome. Nature 2001;409: 860e921
    • (2001) Nature , vol.409 , pp. 860-921
    • Lander, E.S.1    Linton, L.M.2    Birren, B.3
  • 15
    • 0022449412 scopus 로고
    • Strategies for studying heterogeneous genetic traits in humans by using a linkage map of restriction fragment length polymorphism
    • Lander ES, Botstein D. (1986) Strategies for studying heterogeneous genetic traits in humans by using a linkage map of restriction fragment length polymorphism. Proc Nat Acad Sci U S A 83:7353-7735.
    • (1986) Proc Nat Acad Sci U S A , vol.83 , pp. 7353-7735
    • Lander, E.S.1    Botstein, D.2
  • 16
    • 0023239442 scopus 로고
    • Homozygosity mapping. A way to map human recessive traits with the DNA of inbred children
    • Lander ES, Botstein D (1987) Homozygosity mapping. a way to map human recessive traits with the DNA of inbred children. Science 236:1567-1570.
    • (1987) Science , vol.236 , pp. 1567-1570
    • Lander, E.S.1    Botstein, D.2
  • 17
    • 77649235160 scopus 로고    scopus 로고
    • Mutations in TPRN cause a progressive form of autosomal recessive nonsyndromic hearing loss
    • Li Y, Pohl E, Boulouiz R, et al. (2010) Mutations in TPRN cause a progressive form of autosomal recessive nonsyndromic hearing loss. Am J Hum Genet 86:479-484.
    • (2010) Am J Hum Genet , vol.86 , pp. 479-484
    • Li, Y.1    Pohl, E.2    Boulouiz, R.3
  • 18
    • 84862777457 scopus 로고    scopus 로고
    • Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities
    • Lin X, Tang W, Ahmad S, et al. (2012) Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities. Hear Res 288:67-76.
    • (2012) Hear Res , vol.288 , pp. 67-76
    • Lin, X.1    Tang, W.2    Ahmad, S.3
  • 19
    • 77449121614 scopus 로고    scopus 로고
    • Target-enrichment strategies for next-generation sequencing
    • Mamanova L, Coffey AJ, Scott CE, et al. (2010) Target-enrichment strategies for next-generation sequencing. Nat Methods 7:111-118.
    • (2010) Nat Methods , vol.7 , pp. 111-118
    • Mamanova, L.1    Coffey, A.J.2    Scott, C.E.3
  • 20
    • 0035865087 scopus 로고    scopus 로고
    • A physical map of the human genome
    • McPherson JD, Marra M, Hillier L, et al. (2001) A physical map of the human genome. Nature 409:934e41.
    • (2001) Nature , vol.409
    • McPherson, J.D.1    Marra, M.2    Hillier, L.3
  • 21
    • 72849144434 scopus 로고    scopus 로고
    • Sequencing technologies - The next generation
    • Metzker ML (2010) Sequencing technologies - the next generation. Nat Rev Genet 11:31-46.
    • (2010) Nat Rev Genet , vol.11 , pp. 31-46
    • Metzker, M.L.1
  • 22
    • 0029071515 scopus 로고
    • A novel gene oriented in a head-to-head configuration with the human histidyltRNA synthetase (HRS) gene encodes an mRNA that predicts a polypeptide homologous to HRS
    • O'Hanlon TP, Raben N, Miller FW (1995) A novel gene oriented in a head-to-head configuration with the human histidyltRNA synthetase (HRS) gene encodes an mRNA that predicts a polypeptide homologous to HRS. Biochem Biophys Res Commun 210:556-566.
    • (1995) Biochem Biophys Res Commun , vol.210 , pp. 556-566
    • O'Hanlon, T.P.1    Raben, N.2    Miller, F.W.3
  • 23
    • 35748959649 scopus 로고    scopus 로고
    • Microarraybased genomic selection for high-throughput resequencing
    • Okou DT, Steinberg KM, Middle C, et al. (2007) Microarraybased genomic selection for high-throughput resequencing. Nat Methods 4:907-909.
    • (2007) Nat Methods , vol.4 , pp. 907-909
    • Okou, D.T.1    Steinberg, K.M.2    Middle, C.3
  • 24
    • 0018619968 scopus 로고
    • The Perrault syndrome: Autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness
    • Pallister PD, Opitz JM (1979) The Perrault syndrome: Autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. Am J Med Genet 4:239-246.
    • (1979) Am J Med Genet , vol.4 , pp. 239-246
    • Pallister, P.D.1    Opitz, J.M.2
  • 25
    • 55449128036 scopus 로고
    • Two cases of Turner syndrome with deaf mutism in two sisters
    • Perrault M, Klotz B, Housset E (1951) [Two cases of Turner syndrome with deaf mutism in two sisters]. Bull Mem Soc Med Hop Paris 67:79-84.
    • (1951) Bull Mem Soc Med Hop Paris , vol.67 , pp. 79-84
    • Perrault, M.1    Klotz, B.2    Housset, E.3
  • 26
    • 77955574455 scopus 로고    scopus 로고
    • Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault syndrome
    • Pierce SB, Walsh T, Chisholm KM, et al. (2010) Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault syndrome. Am J Hum Genet 87:282-288.
    • (2010) Am J Hum Genet , vol.87 , pp. 282-288
    • Pierce, S.B.1    Walsh, T.2    Chisholm, K.M.3
  • 27
    • 79955634426 scopus 로고    scopus 로고
    • Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome
    • Pierce SB, Chisholm KM, Lynch ED, et al. (2011) Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A 108:6543-6548.
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 6543-6548
    • Pierce, S.B.1    Chisholm, K.M.2    Lynch, E.D.3
  • 28
    • 77649238270 scopus 로고    scopus 로고
    • Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79
    • Rehman AU, Morell RJ, Belyantseva IA, et al. (2010) Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. Am J Hum Genet 86:378-388.
    • (2010) Am J Hum Genet , vol.86 , pp. 378-388
    • Rehman, A.U.1    Morell, R.J.2    Belyantseva, I.A.3
  • 29
    • 79960597679 scopus 로고    scopus 로고
    • An integrated semiconductor device enabling non-optical genome sequencing
    • Rothberg JM, Hinz W, Rearick TM, et al. (2011) An integrated semiconductor device enabling non-optical genome sequencing. Nature 475:348-352.
    • (2011) Nature , vol.475 , pp. 348-352
    • Rothberg, J.M.1    Hinz, W.2    Rearick, T.M.3
  • 30
    • 0035865322 scopus 로고    scopus 로고
    • A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
    • Sachidanandam R, Weissman D, Schmidt SC, et al. (2001) A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409: 928e33.
    • (2001) Nature , vol.409
    • Sachidanandam, R.1    Weissman, D.2    Schmidt, S.C.3
  • 31
    • 79955860747 scopus 로고    scopus 로고
    • Nextgeneration sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment
    • Schraders M, Haas SA, Weegerink NJD, et al. (2011) Nextgeneration sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet 88: 628-634.
    • (2011) Am J Hum Genet , vol.88 , pp. 628-634
    • Schraders, M.1    Haas, S.A.2    Njd, W.3
  • 33
    • 78249275859 scopus 로고    scopus 로고
    • MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes
    • Sirmaci A, Walsh T, Akay H, et al. (2010) MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. Am J Hum Genet 87:679-686.
    • (2010) Am J Hum Genet , vol.87 , pp. 679-686
    • Sirmaci, A.1    Walsh, T.2    Akay, H.3
  • 34
    • 84857405493 scopus 로고    scopus 로고
    • Challenges in whole exome sequencing: An example from hereditary deafness
    • Sirmaci A, Edwards YJ, Akay H, Tekin M (2012) Challenges in whole exome sequencing: an example from hereditary deafness. PLoS One 7:e32000.
    • (2012) PLoS One , vol.7
    • Sirmaci, A.1    Edwards, Y.J.2    Akay, H.3    Tekin, M.4
  • 35
    • 70449106047 scopus 로고    scopus 로고
    • Enabling technologies of genomic-scale sequence enrichment for targeted high-throughput sequencing
    • Summerer D (2009) Enabling technologies of genomic-scale sequence enrichment for targeted high-throughput sequencing. Genomics 94:363-368.
    • (2009) Genomics , vol.94 , pp. 363-368
    • Summerer, D.1
  • 36
    • 55949095205 scopus 로고    scopus 로고
    • Keeping up with the next generation: Massively parallel sequencing in clinical diagnostics
    • ten Bosch JR, Grody WW (2008) Keeping up with the next generation: massively parallel sequencing in clinical diagnostics. J Mol Diagn 10:484-492.
    • (2008) J Mol Diagn , vol.10 , pp. 484-492
    • Ten Bosch, J.R.1    Grody, W.W.2
  • 37
    • 68249092574 scopus 로고    scopus 로고
    • Massively parallel sequencing: The next big thing in genetic medicine
    • Tucker T, Marra M, Friedman JM (2009) Massively parallel sequencing: the next big thing in genetic medicine. Am J Hum Genet 85:142-154.
    • (2009) Am J Hum Genet , vol.85 , pp. 142-154
    • Tucker, T.1    Marra, M.2    Friedman, J.M.3
  • 39
    • 70349316991 scopus 로고    scopus 로고
    • Inherited hearing loss: Molecular genetics and diagnostic testing
    • Vele O, Schrijver I (2008) Inherited hearing loss: molecular genetics and diagnostic testing. Expert Opin Med Diagn 2: 231-248.
    • (2008) Expert Opin Med Diagn , vol.2 , pp. 231-248
    • Vele, O.1    Schrijver, I.2
  • 40
    • 64149123778 scopus 로고    scopus 로고
    • Next-generation sequencing: From basic research to diagnostics
    • Voelkerding KV, Dames SA, Durtschi JD (2009) Next-generation sequencing: from basic research to diagnostics. Clin Chem 55:641-658.
    • (2009) Clin Chem , vol.55 , pp. 641-658
    • Voelkerding, K.V.1    Dames, S.A.2    Durtschi, J.D.3
  • 41
    • 77955084820 scopus 로고    scopus 로고
    • Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82
    • Walsh T, Shahin H, Elkan-Miller T, et al. (2010) Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet 87: 90-94.
    • (2010) Am J Hum Genet , vol.87 , pp. 90-94
    • Walsh, T.1    Shahin, H.2    Elkan-Miller, T.3
  • 42
    • 42249087308 scopus 로고    scopus 로고
    • The complete genome of an individual by massively parallel DNA sequencing
    • Wheeler DA, Srinivasan M, Egholm M, et al. (2008) The complete genome of an individual by massively parallel DNA sequencing. Nature 452:872-876.
    • (2008) Nature , vol.452 , pp. 872-876
    • Wheeler, D.A.1    Srinivasan, M.2    Egholm, M.3
  • 43
    • 84868347148 scopus 로고    scopus 로고
    • Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss
    • Yariz KO, Duman D, Seco CZ, et al. (2012) Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. Am J Hum Genet 91: 872-882.
    • (2012) Am J Hum Genet , vol.91 , pp. 872-882
    • Yariz, K.O.1    Duman, D.2    Seco, C.Z.3
  • 44
    • 84873458287 scopus 로고    scopus 로고
    • Mutation of the ATP-gated P2X2 receptor leads to progressive hearing loss and increased susceptibility to noise
    • Yan D, Zhu Y, Walsh T, et al. (2013) Mutation of the ATP-gated P2X2 receptor leads to progressive hearing loss and increased susceptibility to noise. Proc Natl Acad Sci U S A 110:2228-2233.
    • (2013) Proc Natl Acad Sci U S A , vol.110 , pp. 2228-2233
    • Yan, D.1    Zhu, Y.2    Walsh, T.3
  • 45
    • 27444435592 scopus 로고    scopus 로고
    • Genetic heterogeneity of deafness phenotypes linked to DFNA4
    • Yang T, Pfister M, Blin N, et al. (2005) Genetic heterogeneity of deafness phenotypes linked to DFNA4. Am J Med Genet A 139:9-12.
    • (2005) Am J Med Genet A , vol.139 , pp. 9-12
    • Yang, T.1    Pfister, M.2    Blin, N.3
  • 46
    • 79952751042 scopus 로고    scopus 로고
    • Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alphatectorin and is mutated in autosomal dominant hearing loss (DFNA4)
    • Zheng J, Miller KK, Yang T, et al. (2011) Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alphatectorin and is mutated in autosomal dominant hearing loss (DFNA4). Proc Natl Acad Sci U S A 108:4218-4223.
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 4218-4223
    • Zheng, J.1    Miller, K.K.2    Yang, T.3


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