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BioMed Research International
Volume 2018, Article ID 3103986, 7 pages
https://doi.org/10.1155/2018/3103986
Research Article

Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis

1Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA
2Department of Otolaryngology-Head and Neck Surgery, Shandong Provincial Hospital Affiliated to Shandong University, Jinan 250021, China
3Applied Physiology Research Center, Isfahan Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran
4Neuroscience Research Center, Institute of Neuropharmacology, Kerman University of Medical Sciences, Kerman, Iran
5Department of Medical Genetics, Kerman University of Medical Sciences, Kerman, Iran
6Paediatric and Genetic Counselling Center, Kerman Welfare Organization, Kerman, Iran
7Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China
8John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA

Correspondence should be addressed to Xuezhong Liu; ude.imaim.dem@uilx

Haiqiong Shang, Denise Yan, and Naeimeh Tayebi contributed equally to this work.

Received 11 August 2017; Revised 28 September 2017; Accepted 1 November 2017; Published 15 January 2018

Academic Editor: Domenico Coviello

Copyright © 2018 Haiqiong Shang et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. R. J. H. Smith, J. F. Bale Jr., and K. R. White, “Sensorineural hearing loss in children,” The Lancet, vol. 365, no. 9462, pp. 879–890, 2005. View at Publisher · View at Google Scholar · View at Scopus
  2. C. C. Morton and W. E. Nance, “Newborn hearing screening—a silent revolution,” The New England Journal of Medicine, vol. 354, no. 20, pp. 2151–2164, 2006. View at Publisher · View at Google Scholar · View at Scopus
  3. B. L. Resendes, R. E. Williamson, and C. C. Morton, “At the speed of sound: Gene discovery in the auditory system,” American Journal of Human Genetics, vol. 69, no. 5, Article ID 61309, pp. 923–935, 2001. View at Publisher · View at Google Scholar · View at Scopus
  4. M. L. Metzker, “Sequencing technologies—the next generation,” Nature Reviews Genetics, vol. 11, no. 1, pp. 31–46, 2010. View at Publisher · View at Google Scholar · View at Scopus
  5. E. R. Mardis, “The impact of next-generation sequencing technology on genetics,” Trends in Genetics, vol. 24, no. 3, pp. 133–141, 2008. View at Publisher · View at Google Scholar · View at Scopus
  6. G. Bademci, J. Foster, N. Mahdieh et al., “Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort,” Genetics in Medicine : Official Journal of the American College of Medical Genetics, vol. 18, no. 3, pp. 64–71, 2016. View at Google Scholar
  7. D. Yan, D. Tekin, G. Bademci et al., “Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents,” Human Genetics, vol. 135, no. 8, pp. 953–961, 2016. View at Publisher · View at Google Scholar · View at Scopus
  8. D. Tekin, D. Yan, G. Bademci et al., “A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes,” Hearing Research, vol. 333, pp. 179–184, 2016. View at Publisher · View at Google Scholar · View at Scopus
  9. I. Schrauwen, M. Sommen, J. J. Corneveaux et al., “A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing,” American Journal of Medical Genetics Part A, vol. 161, no. 1, pp. 145–152, 2013. View at Publisher · View at Google Scholar · View at Scopus
  10. Z. Brownstein, L. M. Friedman, H. Shahin et al., “Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families,” Genome Biology, vol. 12, no. 9, article R89, 2011. View at Publisher · View at Google Scholar · View at Scopus
  11. H. Li and R. Durbin, “Fast and accurate long-read alignment with Burrows-Wheeler transform,” Bioinformatics, vol. 26, no. 5, pp. 589–595, 2010. View at Publisher · View at Google Scholar · View at Scopus
  12. S. Richards, N. Aziz, and S. Bale, “Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology,” Genetics in Medicine, vol. 17, no. 5, pp. 405–423, 2015. View at Publisher · View at Google Scholar
  13. H. Shahin, T. Walsh, T. Sobe et al., “Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss,” American Journal of Human Genetics, vol. 78, no. 1, pp. 44–52, 2006. View at Google Scholar
  14. M. Fardaei, S. Sarrafzadeh, S. Ghafouri-Fard et al., “Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene,” InternationaL Journal of Molecular and Cellular Medicine, vol. 4, no. 24, pp. 5–7, 2015. View at Google Scholar
  15. E. Kalay, Y. Li, A. Uzumcu et al., “Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss,” Human Mutation, vol. 27, no. 7, pp. 633–639, 2006. View at Publisher · View at Google Scholar · View at Scopus
  16. M. Bensaïd, M. Hmani-Aifa, B. Hammami et al., “DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss,” European Journal of Medical Genetics, vol. 54, no. 6, pp. e565–e569, 2011. View at Publisher · View at Google Scholar · View at Scopus
  17. F. D. Palma, R. H. Holme, E. C. Bryda et al., “Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D,” Nature Genetics, vol. 27, no. 1, pp. 103–107, 2001. View at Publisher · View at Google Scholar · View at Scopus
  18. J. M. Bork, L. M. Peters, S. Riazuddin et al., “Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23,” American Journal of Human Genetics, vol. 68, no. 1, pp. 26–37, 2001. View at Publisher · View at Google Scholar · View at Scopus
  19. Z. M. Ahmed, S. Riazuddin, J. Ahmad et al., “PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23,” Human Molecular Genetics, vol. 12, no. 24, pp. 3215–3223, 2003. View at Publisher · View at Google Scholar · View at Scopus
  20. C. L. Murcia and R. P. Woychik, “Expression of Pcdh15 in the inner ear, nervous system and various epithelia of the developing embryo,” Mechanisms of Development, vol. 105, no. 1-2, pp. 163–166, 2001. View at Publisher · View at Google Scholar · View at Scopus
  21. Q. Y. Zheng, D. Yan, X. M. Ouyang et al., “Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans,” Human Molecular Genetics, vol. 14, no. 1, pp. 103–111, 2005. View at Publisher · View at Google Scholar · View at Scopus
  22. X.-Z. Liu, J. Walsh, Y. Tamagawa et al., “Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene,” Nature Genetics, vol. 17, no. 3, pp. 268-269, 1997. View at Publisher · View at Google Scholar · View at Scopus
  23. X.-Z. Liu, J. Walsh, P. Mburu et al., “Mutations in the myosin VIIA gene cause non-syndromic recessive deafness,” Nature Genetics, vol. 16, no. 2, pp. 188–190, 1997. View at Publisher · View at Google Scholar · View at Scopus
  24. D. Weil, G. Lévy, I. Sahly et al., “Human myosin VIIA responsible for the Usher 1B syndrome: A predicted membrane-associated motor protein expressed in developing sensory epithelia,” Proceedings of the National Acadamy of Sciences of the United States of America, vol. 93, no. 8, pp. 3232–3237, 1996. View at Publisher · View at Google Scholar · View at Scopus
  25. M. Schliwa and G. Woehlke, “Molecular motors,” Nature, vol. 422, no. 6933, pp. 759–765, 2003. View at Publisher · View at Google Scholar · View at Scopus