Application and progress of high-throughput sequencing technologies in the research of hereditary hearing loss
Received date: 2016-11-07
Revised date: 2017-01-11
Online published: 2017-02-10
Supported by
the Natural Science Foundation of China(81530031)
Hearing loss (HL) is the most common birth defect. Elucidating the genetic basis of hereditary deafness can not only assist diagnosis, provide the basis for genetic counseling and the prevention of deafness, but also bring a deeper understanding of the disease pathogenesis. In the genomic era, high-throughput sequencing technologies, represented by whole genome sequencing (WGS), whole exome sequencing (WES) or target region sequencing, have been widely used in the studies of hereditary HL. Here, we summarize the application and progress of WES and target region sequencing in the research of causative genes and clinical molecular diagnosis of hereditary HL, hoping to be helpful for the development and improvement of clinical genetic diagnosis of deafness in China.
Cuicui Wang,Huijun Yuan . Application and progress of high-throughput sequencing technologies in the research of hereditary hearing loss[J]. Hereditas(Beijing), 2017 , 39(3) : 208 -219 . DOI: 10.16288/j.yczz.16-376
| [1] | Margulies M, Egholm M, Altman WE, Attiya S, Bader JS, Bemben LA, Berka J, Braverman MS, Chen YJ, Chen ZT, Dewell SB, Du L, Fierro JM, Gomes XV, Godwin BC, He W, Helgesen S, Ho CH, Irzyk GP, Jando SC, Alenquer MLI, Jarvie TP, Jirage KB, Kim JB, Knight JR, Lanza JR, Leamon JH, Lefkowitz SM, Lei M, Li J, Lohman KL, Lu H, Makhijani VB, McDade KE, McKenna MP, Myers EW, Nickerson E, Nobile JR, Plant R, Puc BP, Ronan MT, Roth GT, Sarkis GJ, Simons JF, Simpson JW, Srinivasan M, Tartaro KR, Tomasz A, Vogt KA, Volkmer GA, Wang SH, Wang Y, Weiner MP, Yu PG, Begley RF, Rothberg JM. Genome sequencing in microfabricated high-density picolitre reactors. Nature, 2005, 437(7057): 376-380. | |||
| [2] | Wheeler DA, Srinivasan M, Egholm M, Shen YF, Chen L, McGuire A, He W, Chen YJ, Makhijani V, Roth GT, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, Lupski JR, Chinault C, Song XZ, Liu Y, Yuan Y, Nazareth L, Qin X, Muzny DM, Margulies M, Weinstock GM, Gibbs RA, Rothberg JM. The complete genome of an individual by massively parallel DNA sequencing. Nature, 2008, 452(7189): 872-876. | |||
| [3] | Vele O, Schrijver I. Inherited hearing loss: molecular genetics and diagnostic testing. Expert Opin Med Diagn, 2008, 2(3): 231-248. | |||
| [4] | de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, Pembrey ME, Ropers HH, Cremers FP. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science, 1995, 267(5198): 685-688. | |||
| [5] | Diaz-Horta O, Duman D, Foster II J, Sirmaci A, Gonzalez M, Mahdieh N, Fotouhi N, Bonyadi M, Cengiz FB, Menendez I, Ulloa RH, Edwards YJK, Züchner S, Blanton S, Tekin M. Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. PLoS One, 2012, 7(11): e50628. | |||
| [6] | Shearer AE, DeLuca AP, Hildebrand MS, Taylor KR, Gurrola II J, Scherer S, Scheetz TE, Smith RJH. Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci USA, 2010, 107(49): 21104-21109. | |||
| [7] | Sivakumaran TA, Husami A, Kissell D, Zhang WY, Keddache M, Black AP, Tinkle BT, Greinwald JH, Jr., Zhang KJ. Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss. Otolaryngol Head Neck Surg, 2013, 148(6): 1007-1016. | |||
| [8] | Brownstein Z, Friedman LM, Shahin H, Oron-Karni V, Kol N, Rayyan AA, Parzefall T, Lev D, Shalev S, Frydman M, Davidov B, Shohat M, Rahile M, Lieberman S, Levy-Lahad E, Lee MK, Shomron N, King MC, Walsh T, Kanaan M, Avraham KB. Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol, 2011, 12(9): R89. | |||
| [9] | Nishio SY, Usami S. Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan. Ann Otol Rhinol Laryngol, 2015, 124(Suppl. 1): 49S-60S. | |||
| [10] | Sloan-Heggen CM, Bierer AO
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