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Jason R. Rudman, Christine Mei, Sara E. Bressler, Susan H. Blanton, Xue-Zhong Liu. Precision medicine in hearing loss[J]. Journal of Genetics and Genomics, 2018, 45(2): 99-109. doi: 10.1016/j.jgg.2018.02.004
Citation: Jason R. Rudman, Christine Mei, Sara E. Bressler, Susan H. Blanton, Xue-Zhong Liu. Precision medicine in hearing loss[J]. Journal of Genetics and Genomics, 2018, 45(2): 99-109. doi: 10.1016/j.jgg.2018.02.004

doi: 10.1016/j.jgg.2018.02.004

Precision medicine in hearing loss

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  • [1] Abou Tayoun, A.N., Al Turki, S.H., Oza, A.M. et al. Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation Genet. Med., 18 (2016),pp. 545-553
    [2] Akil, O., Seal, R.P., Burke, K. et al. Neuron, 75 (2012),pp. 283-293
    [3] Alford, R.L., Arnos, K.S., Fox, M. et al. American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss Genet. Med., 16 (2014),pp. 347-355
    [4] Aronson, S.J., Rehm, H.L. Building the foundation for genomics in precision medicine Nature, 526 (2015),pp. 336-342
    [5] Askew, C., Rochat, C., Pan, B. et al. Sci. Transl. Med., 7 (2015)
    [6] Atik, T., Bademci, G., Diaz-Horta, O. et al. Whole-exome sequencing and its impact in hereditary hearing loss Genet. Res. (Camb), 97 (2015)
    [7] Azaiez, H., Booth, K.T., Bu, F. et al. Hum. Mutat., 35 (2014),pp. 819-823
    [8] Azaiez, H., Decker, A.R., Booth, K.T. et al. HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice PLoS Genet., 11 (2015)
    [9] Bauer, P.W., Geers, A.E., Brenner, C. et al. Laryngoscope, 113 (2003),pp. 2135-2140
    [10] Behlouli, A., Bonnet, C., Abdi, S. et al. Orphanet J. Rare Dis., 9 (2014),p. 55
    [11] Booth, K.T., Azaiez, H., Kahrizi, K. et al. Am. J. Med. Genet. A, 167A (2015),pp. 2957-2965
    [12] Canzi, P., Pecci, A., Manfrin, M. et al. Acta Otorhinolaryngol. Ital., 36 (2016),pp. 415-420
    [13] Chen, D., Zhao, N., Wang, J. et al. Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family Hum. Genome Var., 4 (2017)
    [14] Cheng, A.K., Rubin, H.R., Powe, N.R. et al. Cost-utility analysis of the cochlear implant in children J. Am. Med. Assoc., 284 (2000),pp. 850-856
    [15] Cullen, R.D., Buchman, C.A., Brown, C.J. et al. Laryngoscope, 114 (2004),pp. 1415-1419
    [16] Cunningham, L.L., Matsui, J.I., Warchol, M.E. et al. J. Neurobiol., 60 (2004),pp. 89-100
    [17] Davcheva-Chakar, M., Sukarova-Stefanovska, E., Ivanovska, V. et al. Balkan Med. J., 31 (2014),pp. 60-63
    [18] Dhar, S.U., Alford, R.L., Nelson, E.A. et al. Enhancing exposure to genetics and genomics through an innovative medical school curriculum Genet. Med., 14 (2012),pp. 163-167
    [19] Diaz-Horta, O., Subasioglu-Uzak, A., Grati, M. et al. FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing Proc. Natl. Acad. Sci. U. S. A., 111 (2014),pp. 9864-9868
    [20] Dinculescu, A., Stupay, R.M., Deng, W.T. et al. PLoS One, 11 (2016)
    [21] Dinh, C., Hoang, K., Haake, S. et al. Otol. Neurotol., 29 (2008),pp. 1012-1019
    [22] Dror, A.A., Avraham, K.B. Hearing impairment: a panoply of genes and functions Neuron, 68 (2010),pp. 293-308
    [23] Duan, M., Venail, F., Spencer, N. et al. Treatment of peripheral sensorineural hearing loss: gene therapy Gene Ther., 11 (2004),pp. S51-S56
    [24] Edwards, T.L., Jolly, J.K., Groppe, M. et al. Visual acuity after retinal gene therapy for choroideremia N. Engl. J. Med., 374 (2016),pp. 1996-1998
    [25] Elbracht, M., Senderek, J., Eggermann, T. et al. J. Med. Genet., 44 (2007),p. e81
    [26] Eshraghi, A.A., Adil, E., He, J. et al. Local dexamethasone therapy conserves hearing in an animal model of electrode insertion trauma-induced hearing loss Otol. Neurotol., 28 (2007),pp. 842-849
    [27] Farhadi, M., Jalessi, M., Salehian, P. et al. Dexamethasone eluting cochlear implant: histological study in animal model Cochlear Implants Int., 14 (2013),pp. 45-50
    [28] Fedick, A.M., Jalas, C., Swaroop, A. et al. Appl. Clin. Genet., 9 (2016),pp. 141-146
    [29] Fukui, H., Raphael, Y. Gene therapy for the inner ear Hear. Res., 297 (2013),pp. 99-105
    [30] Fukui, H., Wong, H.T., Beyer, L.A. et al. Sci. Rep., 2 (2012),p. 838
    [31] Gao, Z., Chen, Y., Guan, M.X. Mitochondrial DNA mutations associated with aminoglycoside induced ototoxicity J. Otolaryngol., 12 (2017),pp. 1-8
    [32] Geller, S.F., Guerin, K.I., Visel, M. et al. PLoS Genet., 5 (2009),p. e1000607
    [33] Geng, R., Melki, S., Chen, D.H. et al. The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene J. Neurosci., 32 (2012),pp. 9485-9498
    [34] Ghasemnejad, T., Shekari Khaniani, M., Zarei, F. et al. An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population Int. J. Pediatr. Otorhinolaryngol., 97 (2017),pp. 113-126
    [35] Green, G.E., Scott, D.A., McDonald, J.M. et al. Am. J. Med. Genet., 109 (2002),pp. 167-170
    [36] Green, R.C., Berg, J.S., Grody, W.W. et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing Genet. Med., 15 (2013),pp. 565-574
    [37] Han, Z., Wang, C.P., Cong, N. et al. Therapeutic value of nerve growth factor in promoting neural stem cell survival and differentiation and protecting against neuronal hearing loss Mol. Cell. Biochem., 428 (2017),pp. 149-159
    [38] Henneman, L., Vermeulen, E., van El, C.G. et al. Public attitudes towards genetic testing revisited: comparing opinions between 2002 and 2010 Eur. J. Hum. Genet., 21 (2013),pp. 793-799
    [39] Iizuka, T., Kamiya, K., Gotoh, S. et al. Hum. Mol. Genet., 24 (2015),pp. 3651-3661
    [40] Isgrig, K., Shteamer, J.W., Belyantseva, I.A. et al. Gene therapy restores balance and auditory functions in a mouse model of Usher syndrome Mol. Ther., 25 (2017),pp. 780-791
    [41] Jasper, K.M., Jamshidi, A., Reilly, B.K. Pediatric otolaryngology, molecular diagnosis of hereditary hearing loss: next-generation sequencing approach Curr. Opin. Otolaryngol. Head Neck Surg., 23 (2015),pp. 480-484
    [42] Jolly, C., Garnham, C., Mirzadeh, H. et al. Electrode features for hearing preservation and drug delivery strategies Adv. Otorhinolaryngol., 67 (2010),pp. 28-42
    [43] Karamert, R., Bayazit, Y.A., Altinyay, S. et al. Int. J. Pediatr. Otorhinolaryngol., 75 (2011),pp. 1572-1575
    [44] Kil, K., Choi, M.Y., Kong, J.S. et al. Regenerative efficacy of mesenchymal stromal cells from human placenta in sensorineural hearing loss Int. J. Pediatr. Otorhinolaryngol., 91 (2016),pp. 72-81
    [45] Klein, C.J., Botuyan, M.V., Wu, Y. et al. Nat. Genet., 43 (2011),pp. 595-600
    [46] Klingbeil, K.D., Greenland, C.M., Arslan, S. et al. Int. J. Pediatr. Otorhinolaryngol., 98 (2017),pp. 59-63
    [47] Kochenderfer, J.N., Wilson, W.H., Janik, J.E. et al. Eradication of B-lineage cells and regression of lymphoma in a patient treated with autologous T cells genetically engineered to recognize CD19 Blood, 116 (2010),pp. 4099-4102
    [48] Kochhar, A., Hildebrand, M.S., Smith, R.J. Clinical aspects of hereditary hearing loss Genet. Med., 9 (2007),pp. 393-408
    [49] Kohrman, D.C., Raphael, Y. Gene therapy for deafness Gene Ther., 20 (2013),pp. 1119-1123
    [50] Landegger, L.D., Pan, B., Askew, C. et al. A synthetic AAV vector enables safe and efficient gene transfer to the mammalian inner ear Nat. Biotechnol., 35 (2017),pp. 280-284
    [51] Lee, H.K., Lee, S.H., Lee, K.Y. et al. Clin. Genet., 75 (2009),pp. 572-575
    [52] Lieu, J.E. Speech-language and educational consequences of unilateral hearing loss in children Arch. Otolaryngol. Head Neck Surg., 130 (2004),pp. 524-530
    [53] Liming, B.J., Carter, J., Cheng, A. et al. International Pediatric Otolaryngology Group (IPOG) consensus recommendations: hearing loss in the pediatric patient Int. J. Pediatr. Otorhinolaryngol., 90 (2016),pp. 251-258
    [54] Lin, F.R., Niparko, J.K., Ferrucci, L. Hearing loss prevalence in the United States Arch. Intern. Med., 171 (2011),pp. 1851-1852
    [55] Liu, Y.H., Ke, X.M., Qin, Y. et al. Adeno-associated virus-mediated Bcl-xL prevents aminoglycoside-induced hearing loss in mice Chin. Med. J. (Engl), 120 (2007),pp. 1236-1240
    [56] Ma, Z., Xia, W., Liu, F. et al. Hum. Mol. Genet., 26 (2017),pp. 383-394
    [57] Matsuoka, A.J., Morrissey, Z.D., Zhang, C. et al. Directed differentiation of human embryonic stem cells toward placode-derived spiral ganglion-like sensory neurons Stem Cells Transl. Med., 6 (2017),pp. 923-936
    [58] Matsushiro, N., Doi, K., Fuse, Y. et al. Laryngoscope, 112 (2002),pp. 255-261
    [59] McGrath, S., Ghersi, D. Building towards precision medicine: empowering medical professionals for the next revolution BMC Med. Genomics, 9 (2016),p. 23
    [60] Miyagawa, M., Nishio, S.Y., Hattori, M. et al. Ann. Otol. Rhinol. Laryngol., 124 (2015),pp. 158S-168S
    [61] Miyagawa, M., Nishio, S.Y., Ikeda, T. et al. Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS PLoS One, 8 (2013)
    [62] Miyagawa, M., Nishio, S.Y., Kumakawa, K. et al. Ann. Otol. Rhinol. Laryngol., 124 (2015),pp. 148S-157S
    [63] Miyagawa, M., Nishio, S.Y., Sakurai, Y. et al. Ann. Otol. Rhinol. Laryngol., 124 (2015),pp. 193S-204S
    [64] Miyagawa, M., Nishio, S.Y., Usami, S. A comprehensive study on the etiology of patients receiving cochlear implantation with special emphasis on genetic epidemiology Otol. Neurotol., 37 (2016),pp. e126-134
    [65] Mohammadian, F., Eatemadi, A., Daraee, H. Application of stem cell for the regeneration of spiral ganglion neurons Cell. Mol. Biol. (Noisy-le-grand), 63 (2017),pp. 6-12
    [66] Mohr, P.E., Feldman, J.J., Dunbar, J.L. The societal costs of severe to profound hearing loss in the United States Policy Anal. Brief H. Ser., 2 (2000),pp. 1-4
    [67] Mori, K., Moteki, H., Kobayashi, Y. et al. Ann. Otol. Rhinol. Laryngol., 124 (2015),pp. 135S-141S
    [68] Nishiyama, N., Kawano, A., Kawaguchi, S. et al. Cochlear implantation in a patient with Epstein syndrome Auris Nasus Larynx, 40 (2013),pp. 409-412
    [69] Ohlemiller, K.K., McFadden, S.L., Ding, D.L. et al. Audiol. Neuro. Otol., 4 (1999),pp. 237-246
    [70] Pan, B., Askew, C., Galvin, A. et al. Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c Nat. Biotechnol., 35 (2017),pp. 264-272
    [71] Pecci, A., Verver, E.J., Schlegel, N. et al. Orphanet J. Rare Dis., 9 (2014),p. 100
    [72] Pierce, S.B., Chisholm, K.M., Lynch, E.D. et al. Proc. Natl. Acad. Sci. U. S. A., 108 (2011),pp. 6543-6548
    [73] Pierce, S.B., Walsh, T., Chisholm, K.M. et al. Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault syndrome Am. J. Hum. Genet., 87 (2010),pp. 282-288
    [74] Plontke, S.K., Gotze, G., Rahne, T. et al. Intracochlear drug delivery in combination with cochlear implants : current aspects HNO, 65 (2017),pp. 19-28
    [75] Pollak, A., Lechowicz, U., Kedra, A. et al. PLoS One, 11 (2016)
    [76] Punch, R., Hyde, M., Creed, P.A. Issues in the school-to-work transition of hard of hearing adolescents Am. Ann. Deaf, 149 (2004),pp. 28-38
    [77] Rehman, A.U., Morell, R.J., Belyantseva, I.A. et al. Am. J. Hum. Genet., 86 (2010),pp. 378-388
    [78] Rouillon, I., Marcolla, A., Roux, I. et al. Int. J. Pediatr. Otorhinolaryngol., 70 (2006),pp. 689-696
    [79] Ruben, R.J. Redefining the survival of the fittest: communication disorders in the 21st century Laryngoscope, 110 (2000),pp. 241-245
    [80] Rudman, J.R., Kabahuma, R.I., Bressler, S.E. et al. The genetic basis of deafness in populations of African descent J. Genet. Genomics, 44 (2017),pp. 285-294
    [81] Sakuma, N., Moteki, H., Azaiez, H. et al. Ann. Otol. Rhinol. Laryngol., 124 (2015),pp. 184S-192S
    [82] Schraders, M., Haas, S.A., Weegerink, N.J. et al. Am. J. Hum. Genet., 88 (2011),pp. 628-634
    [83] Schrijver, I. Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound J. Mol. Diagn., 6 (2004),pp. 275-284
    [84] Selimoglu, E. Aminoglycoside-induced ototoxicity Curr. Pharm. Des., 13 (2007),pp. 119-126
    [85] Sengillo, J.D., Justus, S., Cabral, T. et al. Correction of monogenic and common retinal disorders with gene therapy Genes (Basel), 8 (2017),p. 53
    [86] Shafique, S., Siddiqi, S., Schraders, M. et al. Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families PLoS One, 9 (2014)
    [87] Shearer, A.E., Black-Ziegelbein, E.A., Hildebrand, M.S. et al. Advancing genetic testing for deafness with genomic technology J. Med. Genet., 50 (2013),pp. 627-634
    [88] Shearer, A.E., DeLuca, A.P., Hildebrand, M.S. et al. Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing Proc. Natl. Acad. Sci. U. S. A., 107 (2010),pp. 21104-21109
    [89] Shearer, A.E., Eppsteiner, R.W., Frees, K. et al. Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance Hear. Res., 348 (2017),pp. 138-142
    [90] Shearer, A.E., Kolbe, D.L., Azaiez, H. et al. Copy number variants are a common cause of non-syndromic hearing loss Genome Med., 6 (2014),p. 37
    [91] Shen, J., Morton, C. Next-generation newborn hearing screening Monogr. Hum. Genet., 20 (2016),pp. 30-39
    [92] Shu, Y., Tao, Y., Li, W. et al. Neural Plast., 2016 (2016),p. 9409846
    [93] Shu, Y., Tao, Y., Wang, Z. et al. Identification of adeno-associated viral vectors that target neonatal and adult mammalian inner ear cell subtypes Hum. Gene Ther., 27 (2016),pp. 687-699
    [94] Sinnathuray, A.R., Raut, V., Awa, A. et al. A review of cochlear implantation in mitochondrial sensorineural hearing loss Otol. Neurotol., 24 (2003),pp. 418-426
    [95] Sirmaci, A., Walsh, T., Akay, H. et al. Am. J. Hum. Genet., 87 (2010),pp. 679-686
    [96] Sloan-Heggen, C.M., Babanejad, M., Beheshtian, M. et al. Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran J. Med. Genet., 52 (2015),pp. 823-829
    [97] Stankovic, K.M., Hennessey, A.M., Herrmann, B. et al. Ann. Otol. Rhinol. Laryngol., 119 (2010),pp. 815-822
    [98] Suckfuell, M., Lisowska, G., Domka, W. et al. Efficacy and safety of AM-111 in the treatment of acute sensorineural hearing loss: a double-blind, randomized, placebo-controlled phase II study Otol. Neurotol., 35 (2014),pp. 1317-1326
    [99] Suzuki, J., Hashimoto, K., Xiao, R. et al. Cochlear gene therapy with ancestral AAV in adult mice: complete transduction of inner hair cells without cochlear dysfunction Sci. Rep., 7 (2017),p. 45524
    [100] Tang, F., Ma, D., Wang, Y. et al. BMC Med. Genet., 18 (2017),p. 35
    [101] Tekin, D., Yan, D., Bademci, G. et al. A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes Hear. Res., 333 (2016),pp. 179-184
    [102] Testa, F., Maguire, A.M., Rossi, S. et al. Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2 Ophthalmology, 120 (2013),pp. 1283-1291
    [103] Tsukada, K., Ichinose, A., Miyagawa, M. et al. Ann. Otol. Rhinol. Laryngol., 124 (2015),pp. 100S-110S
    [104] Usami, S., Miyagawa, M., Nishio, S.Y. et al. Acta Otolaryngol., 132 (2012),pp. 377-384
    [105] Van Camp, G., Willems, P.J., Smith, R.J. Nonsyndromic hearing impairment: unparalleled heterogeneity Am. J. Hum. Genet., 60 (1997),pp. 758-764
    [106] van Leeuwen, N., Nijpels, G., Becker, M.L. et al. A gene variant near ATM is significantly associated with metformin treatment response in type 2 diabetes: a replication and meta-analysis of five cohorts Diabetologia, 55 (2012),pp. 1971-1977
    [107] Vermeire, K., Brokx, J.P., Wuyts, F.L. et al. Otol. Neurotol., 27 (2006),pp. 44-49
    [108] Volk, A.E., Lang-Roth, R., Yigit, G. et al. Audiol. Neuro. Otol., 18 (2013),pp. 192-199
    [109] Vona, B., Nanda, I., Hofrichter, M.A. et al. Non-syndromic hearing loss gene identification: a brief history and glimpse into the future Mol. Cell. Probes, 29 (2015),pp. 260-270
    [110] Walsh, T., Shahin, H., Elkan-Miller, T. et al. Am. J. Hum. Genet., 87 (2010),pp. 90-94
    [111] Weegerink, N.J., Schraders, M., Oostrik, J. et al. J. Assoc. Res. Otolaryngol., 12 (2011),pp. 753-766
    [112] Wu, C.C., Lee, Y.C., Chen, P.J. et al. Predominance of genetic diagnosis and imaging results as predictors in determining the speech perception performance outcome after cochlear implantation in children Arch. Pediatr. Adolesc. Med., 162 (2008),pp. 269-276
    [113] Wu, C.C., Lin, S.Y., Su, Y.N. et al. Audiol. Neurootol., 15 (2010),pp. 311-317
    [114] Wu, C.C., Liu, T.C., Wang, S.H. et al. Genetic characteristics in children with cochlear implants and the corresponding auditory performance Laryngoscope, 121 (2011),pp. 1287-1293
    [115] Wu, C.M., Ko, H.C., Tsou, Y.T. et al. PLoS One, 10 (2015)
    [116] Xing, G., Yao, J., Liu, C. et al. J. Med. Genet., 54 (2017),pp. 426-430
    [117] Yan, D., Tekin, M., Blanton, S.H. et al. Next-generation sequencing in genetic hearing loss Genet. Test. Mol. Biomarkers, 17 (2013),pp. 581-587
    [118] Yan, Y.J., Li, Y., Yang, T. et al. Eur. Arch. Oto-Rhino-Laryngol., 270 (2013),pp. 2865-2870
    [119] Yariz, K.O., Duman, D., Zazo Seco, C. et al. Am. J. Hum. Genet., 91 (2012),pp. 872-882
    [120] Yoshida, H., Takahashi, H., Kanda, Y. et al. Auris Nasus Larynx, 40 (2013),pp. 435-439
    [121] Yu, Q., Wang, Y., Chang, Q. et al. Gene Ther., 21 (2014),pp. 71-80
    [122] Yueh, B., Shapiro, N., MacLean, C.H. et al. Screening and management of adult hearing loss in primary care: scientific review J. Am. Med. Assoc., 289 (2003),pp. 1976-1985
    [123] Zhang, L.P., Chai, Y.C., Yang, T. et al. Int. J. Pediatr. Otorhinolaryngol., 77 (2013),pp. 1749-1752
    [124] Zheng, J., Miller, K.K., Yang, T. et al. Proc. Natl. Acad. Sci. U. S. A., 108 (2011),pp. 4218-4223
    [125] Zou, B., Mittal, R., Grati, M. et al. The application of genome editing in studying hearing loss Hear. Res., 327 (2015),pp. 102-108
    [126] Zuris, J.A., Thompson, D.B., Shu, Y. et al. Nat. Biotechnol., 33 (2015),pp. 73-80
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出版历程
  • 收稿日期:  2017-07-27
  • 录用日期:  2018-02-12
  • 修回日期:  2018-02-12
  • 网络出版日期:  2018-02-16
  • 刊出日期:  2018-02-20

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