Cochlear implantation in the era of genomic medicine

References

• Atik, T., Onay, H., Aykut, A., Bademci, G., Kirazli, T., Tekin, M., van Wijk, E. 2015. Comprehensive analysis of deafness genes in families with autosomal recessive nonsyndromic hearing loss. PLOS ONE, 10(11): e0142154. doi:10.1371/journal.pone.0142154.
   PubMed Web of Science ®Google Scholar
• Azaiez, H., Booth, K.T., Ephraim, S.S., Crone, B., Black-Ziegelbein, E.A., Marini, R.J., Smith, R.J.H. 2018. Genomic landscape and mutational signatures of deafness-associated genes. The American Journal of Human Genetics, 103(4): 484–497. doi:10.1016/j.ajhg.2018.08.006.
   PubMed Web of Science ®Google Scholar
• Barwell, J.G., O’Sullivan, R.B., Mansbridge, L.K., Lowry, J.M., Dorkins, H.R. 2018. Challenges in implementing genomic medicine: the 100,000 genomes Project. Journal of Translational Genetics and Genomics. doi:10.20517/jtgg.2018.17.
   Google Scholar
• Bitner-Glindzicz, M., Pembrey, M., Duncan, A., Heron, J., Ring, S.M., Hall, A., Rahman, S. 2009. Prevalence of mitochondrial 1555A→G mutation in European children. New England Journal of Medicine, 360(6): 640–642. doi:10.1056/NEJMc0806396.
   PubMed Web of Science ®Google Scholar
• British Association of Audiovestibular Physicians. 2015. Guidelines for aetiological investigation into severe to profound bilateral permanent childhood hearing impairment.
   Google Scholar
• Broomfield, S. J., Murphy, J., Wild, D. C., Emmett, S. R., O’Donoghue, G. M., & Writing for the UK National Paediatric CI Surgical Audit Group. (2014). Results of a prospective surgical audit of bilateral paediatric cochlear implantation in the UK. Cochlear Implants International, 15(5), 246–253. doi: 10.1179/1754762813Y.0000000041
   PubMedGoogle Scholar
• Caulfield, M., Davies, J., Dennys, M., Elbahy, L., Fowler, T., Hill, S., Woods, K. 2017. The 100,000 genomes project protocol. doi:10.6084/M9.FIGSHARE.4530893.V2.
   Google Scholar
• Chattaraj, P., Reimold, F. R., Muskett, J. A., Shmukler, B. E., Chien, W. W., Madeo, A. C., … Griffith, A. J. (2013). Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct. JAMA Otolaryngology–Head & Neck Surgery, 139(9), 907. doi: 10.1001/jamaoto.2013.4185
   Google Scholar
• Damen, G.W.J.A., Pennings, R.J.E., Snik, A.F.M., Mylanus, E.A.M. 2006. Quality of life and cochlear implantation in Usher syndrome type I. The Laryngoscope, 116(5): 723–728. doi:10.1097/01.mlg.0000205128.86063.17.
   PubMed Web of Science ®Google Scholar
• Ellingford, J.M., Sergouniotis, P.I., Lennon, R., Bhaskar, S., Williams, S.G., Hillman, K.A., Black, G.C.M. 2015. Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome. Lancet (London, England), 385(9980): 1916. doi:10.1016/S0140-6736(15)60496-2.
   PubMed Web of Science ®Google Scholar
• Eppsteiner, R.W., Shearer, A.E., Hildebrand, M.S., DeLuca, A.P., Ji, H., Dunn, C.C., Smith, R.J.H. 2012. Prediction of cochlear implant performance by genetic mutation: The spiral ganglion hypothesis. Hearing Research, 292(1–2): 51–58. doi:10.1016/j.heares.2012.08.007.
   PubMed Web of Science ®Google Scholar
• Hartel, B.P., van Nierop, J.W.I., Huinck, W.J., Rotteveel, L.J.C., Mylanus, E.A.M., Snik, A.F., Pennings, R.J.E. 2017. Cochlear implantation in patients with usher syndrome type iia increases performance and quality of life. Otology & Neurotology, 38(6): e120–e127. doi:10.1097/MAO.0000000000001441.
   PubMed Web of Science ®Google Scholar
• Jayawardena, A.D.L., Shearer, A.E., Smith, R.J.H. 2015. Sensorineural hearing loss. Otolaryngology-Head and Neck Surgery, 153(5): 843–850. doi:10.1177/0194599815596727.
   PubMed Web of Science ®Google Scholar
• King, K.A., Choi, B.Y., Zalewski, C., Madeo, A.C., Manichaikul, A., Pryor, S.P., Brewer, C.C. 2009. SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct. The Laryngoscope, 120(2), doi:10.1002/lary.20722.
   Web of Science ®Google Scholar
• Korver, A.M.H., Smith, R.J.H., Van Camp, G., Schleiss, M.R., Bitner-Glindzicz, M.A.K., Lustig, L.R., Boudewyns, A.N. 2017. Congenital hearing loss. Nature Reviews Disease Primers, 3: 16094. doi:10.1038/nrdp.2016.94.
   PubMed Web of Science ®Google Scholar
• Liu, Y., Wang, L., Feng, Y., He, C., Liu, D., Cai, X., Mei, L. 2016. A new genetic diagnostic for enlarged vestibular aqueduct based on next-generation sequencing. PLoS ONE, 11(12): e0168508. doi:10.1371/journal.pone.0168508.
   PubMed Web of Science ®Google Scholar
• Mac Ardle, B., & Bitner-Glindzicz, M. (2010). Investigation of the child with permanent hearing impairment. Archives of Disease in Childhood: Education and Practice Edition. doi: 10.1136/adc.2008.150987
   Web of Science ®Google Scholar
• Metzker, M.L. 2010. Sequencing technologies – the next generation. Nature Reviews. Genetics, 11(1): 31–46. doi:10.1038/nrg2626.
   PubMed Web of Science ®Google Scholar
• Miyagawa, M., Nishio, S.Y., Sakurai, Y., Hattori, M., Tsukada, K., Moteki, H., Usami, S.I. 2015. The patients associated with tmprss3 mutations are good candidates for electric acoustic stimulation. Annals of Otology, Rhinology and Laryngology, 124(1_suppl): 193S–204S. doi:10.1177/0003489415575056.
   PubMedGoogle Scholar
• Mori, K., Moteki, H., Kobayashi, Y., Azaiez, H., Booth, K.T., Nishio, S.Y., Usami, S.I. 2015. Mutations in LOXHD1 gene cause various types and severities of hearing loss. Annals of Otology, Rhinology and Laryngology, 124(1_suppl): 135S–141S. doi:10.1177/0003489415574067.
   PubMedGoogle Scholar
• Nishio, S., Usami, S. 2017. Outcomes of cochlear implantation for the patients with specific genetic etiologies: a systematic literature review. Acta Oto-Laryngologica, 0(0): 1–13. doi:10.1080/00016489.2016.1276303.
   Google Scholar
• Okamoto, Y., Mutai, H., Nakano, A., Arimoto, Y., Sugiuchi, T., Masuda, S., Matsunaga, T. 2014. Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss. The Laryngoscope, 124(4): E134–E140. doi:10.1002/lary.24368.
   PubMed Web of Science ®Google Scholar
• Petersen, N.K., Jørgensen, A.W., Ovesen, T. 2015. Prevalence of various etiologies of hearing loss among cochlear implant recipients: systematic review and meta-analysis. International Journal of Audiology, 54(12): 924–932. doi:10.3109/14992027.2015.1091094.
   PubMed Web of Science ®Google Scholar
• Pryor, S.P., Madeo, A.C., Reynolds, J.C., Sarlis, N.J., Arnos, K.S., Nance, W.E., Griffith, A.J. 2005. SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. Journal of Medical Genetics, 42(2): 159–165. doi:10.1136/jmg.2004.024208.
   PubMed Web of Science ®Google Scholar
• Roh, K.J., Park, S., Jung, J.S., Moon, I.S., Kim, S.H., Bang, M.Y., Choi, J.Y. 2017. Hearing preservation during cochlear implantation and electroacoustic stimulation in patients with SLC26A4 mutations. Otology and Neurotology, 38(9): 1262–1267. doi:10.1097/MAO.0000000000001522.
   PubMed Web of Science ®Google Scholar
• Shearer, A.E., Eppsteiner, R.W., Frees, K., Tejani, V., Sloan-Heggen, C.M., Brown, C., Smith, R.J.H. 2017. Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance. Hearing Research. doi:10.1016/j.heares.2017.02.008.
   PubMed Web of Science ®Google Scholar
• Shearer, A.E., Kolbe, D.L., Azaiez, H., Sloan, C.M., Frees, K.L., Weaver, A.E., Smith, R.J.H. 2014. Copy number variants are a common cause of non-syndromic hearing loss. Genome Medicine, 6(5): 37. doi:10.1186/gm554.
   PubMed Web of Science ®Google Scholar
• Shearer, A.E., Shen, J., Amr, S., Morton, C.C., Smith, R.J. 2019. A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children. Genetics in Medicine. doi:10.1038/s41436-019-0563-5.
   Web of Science ®Google Scholar
• Shearer, A.E., Smith, R.J.H. 2015. Massively Parallel sequencing for genetic diagnosis of hearing loss: the new standard of care. Otolaryngology–Head and Neck Surgery, 153(2): 175–182. doi:10.1177/0194599815591156.
   PubMed Web of Science ®Google Scholar
• Shearer, A.E., Tejani, V.D., Brown, C.J., Abbas, P.J., Hansen, M.R., Gantz, B.J., Smith, R.J.H. 2018. In vivo electrocochleography in hybrid cochlear implant users implicates TMPRSS3 in spiral ganglion function. Scientific Reports, 8(1): 14165. doi:10.1038/s41598-018-32630-9.
   PubMedGoogle Scholar
• Sloan-Heggen, C.M., Bierer, A.O., Shearer, A.E., Kolbe, D.L., Nishimura, C.J., Frees, K.L., Smith, R.J.H. 2016. Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Human Genetics. doi:10.1007/s00439-016-1648-8.
   PubMedGoogle Scholar
• Sloan-Heggen, C.M., Smith, R.J.H. 2016. Navigating genetic diagnostics in patients with hearing loss. Current Opinion in Pediatrics, 28(6): 705–712. doi:10.1097/MOP.0000000000000410.
   PubMed Web of Science ®Google Scholar
• Snoeckx, R. L., Huygen, P. L. M., Feldmann, D., Marlin, S., Denoyelle, F., Waligora, J., … Van Camp, G. (2005). GJB2 mutations and degree of hearing loss: a multicenter study. The American Journal of Human Genetics, 77(6), 945–957. doi:10.1086/497996.
   Google Scholar
• Van Camp, G., Smith, R. 2015. Hereditary hearing loss – hereditary hearing loss homepage. [cited 2017 May 1]. Available from http://hereditaryhearingloss.org.
   Google Scholar
• Vona, B., Nanda, I., Hofrichter, M.A.H., Shehata-Dieler, W., Haaf, T. 2015. Non-syndromic hearing loss gene identification: a brief history and glimpse into the future. Molecular and Cellular Probes, 29(5): 260–270. doi:10.1016/j.mcp.2015.03.008.
   PubMed Web of Science ®Google Scholar
• Wu, C.-C., Lin, Y.-H., Liu, T.-C., Lin, K.-N., Yang, W.-S., Hsu, C.-J., Wu, C.-M. n.d. Identifying children with poor cochlear implantation outcomes using massively parallel sequencing. doi:10.1097/MD.0000000000001073.
   Google Scholar
• Zhao, F., Lan, L., Wang, D., Han, B., Qi, Y., Zhao, Y., Wang, Q. 2013. Correlation analysis of genotypes, auditory function, and vestibular size in Chinese children with enlarged vestibular aqueduct syndrome. Acta Oto-Laryngologica, 133(12): 1242–1249. doi:10.3109/00016489.2013.822555.
   PubMed Web of Science ®Google Scholar