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Disease Markers
Volume 2018, Article ID 5298057, 9 pages
https://doi.org/10.1155/2018/5298057
Research Article

Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique

1Department of Otorhinolaryngology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, China
2Medical Genetics Center, The First Affiliated Hospital, Army Medical University, Chongqing 400038, China
3Department of Otorhinolaryngology, The First People’s Hospital, Kashi Municipality, Xinjiang 844000, China

Correspondence should be addressed to Hua Zhang; moc.361@601gnahzh and Huijun Yuan; moc.361@103jhnauy

Received 15 June 2017; Revised 28 August 2017; Accepted 28 September 2017; Published 5 March 2018

Academic Editor: Silvia Angeletti

Copyright © 2018 Yu Chen 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. S. Shafique, S. Siddiqi, M. Schraders et al., “Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families,” PLoS One, vol. 9, no. 6, article e100146, 2014. View at Publisher · View at Google Scholar · View at Scopus
  2. P. Dai, F. Yu, B. Han et al., “GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment,” Journal of Translational Medicine, vol. 7, no. 1, p. 26, 2009. View at Publisher · View at Google Scholar · View at Scopus
  3. S. Reyes, G. Wang, X. Ouyang et al., “Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct,” Otolaryngology and Head and Neck Surgery, vol. 141, no. 4, pp. 502–508, 2009. View at Publisher · View at Google Scholar · View at Scopus
  4. Y. Chen, M. Tudi, J. Sun et al., “Genetic mutations in non-syndromic deafness patients of Uyghur and Han Chinese ethnicities in Xinjiang, China: a comparative study,” Journal of Translational Medicine, vol. 9, no. 1, p. 154, 2011. View at Publisher · View at Google Scholar · View at Scopus
  5. W. Du, Q. Wang, Y. Zhu, Y. Wang, and Y. Guo, “Associations between GJB2, mitochondrial 12S rRNA, SLC26A4 mutations, and hearing loss among three ethnicities,” BioMed Research International, vol. 2014, Article ID 746838, 6 pages, 2014. View at Publisher · View at Google Scholar · View at Scopus
  6. Y. Chen, Z. Wang, Z. Wang et al., “Targeted next-generation sequencing in Uyghur families with non-syndromic sensorineural hearing loss,” PLoS One, vol. 10, no. 5, article e0127879, 2015. View at Publisher · View at Google Scholar · View at Scopus
  7. H. Li, B. Wang, D. Liu et al., “SNPscan as a high-performance screening tool for mutation hotspots of hearing loss-associated genes,” Genomics, vol. 106, no. 2, pp. 83–87, 2015. View at Publisher · View at Google Scholar · View at Scopus
  8. X. Gao, Q. Y. Zhu, Y. S. Song et al., “Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing,” Journal of Translational Medicine, vol. 11, no. 1, p. 284, 2013. View at Publisher · View at Google Scholar · View at Scopus
  9. M. B. Petersen and P. J. Willems, “Non-syndromic, autosomal-recessive deafness,” Clinical Genetics, vol. 69, no. 5, pp. 371–392, 2006. View at Publisher · View at Google Scholar · View at Scopus
  10. A. Wang, Y. Liang, R. A. Fridell et al., “Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3,” Science, vol. 280, no. 5368, pp. 1447–1451, 1998. View at Publisher · View at Google Scholar · View at Scopus
  11. D. Duman, A. Sirmaci, F. B. Cengiz, H. Ozdag, and M. Tekin, “Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey,” Genetic Testing and Molecular Biomarkers, vol. 15, no. 1-2, pp. 29–33, 2011. View at Publisher · View at Google Scholar · View at Scopus
  12. Z. Fattahi, A. E. Shearer, M. Babanejad et al., “Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population,” American Journal of Medical Genetics A, vol. 158A, no. 8, pp. 1857–1864, 2012. View at Publisher · View at Google Scholar · View at Scopus
  13. W. Li, L. Guo, Y. Li et al., “A novel recessive truncating mutation in MYO15A causing prelingual sensorineural hearing loss,” International Journal of Pediatric Otorhinolaryngology, vol. 81, pp. 92–95, 2016. View at Publisher · View at Google Scholar · View at Scopus
  14. H. Xia, X. Huang, Y. Guo et al., “Identification of a novel MYO15A mutation in a Chinese family with autosomal recessive nonsyndromic hearing loss,” PLoS One, vol. 10, no. 8, article e0136306, 2015. View at Publisher · View at Google Scholar · View at Scopus
  15. A. Bakhchane, H. Charoute, H. Nahili et al., “A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family,” Gene, vol. 574, no. 1, pp. 28–33, 2015. View at Publisher · View at Google Scholar · View at Scopus
  16. X. Gao, Y. Su, L. P. Guan et al., “Novel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese family,” PLoS One, vol. 8, no. 5, article e63026, 2013. View at Publisher · View at Google Scholar · View at Scopus
  17. A. Imtiaz, A. Maqsood, A. U. Rehman et al., “Recessive mutations of TMC1 associated with moderate to severe hearing loss,” Neurogenetics, vol. 17, no. 2, pp. 115–123, 2016. View at Publisher · View at Google Scholar · View at Scopus
  18. J. Hu, F. Liu, W. Xia et al., “Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss,” Journal of Translational Medicine, vol. 14, no. 1, p. 29, 2016. View at Publisher · View at Google Scholar · View at Scopus
  19. Z. M. Ahmed, S. Riazuddin, S. L. Bernstein et al., “Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F,” American Journal of Human Genetics, vol. 69, no. 1, pp. 25–34, 2001. View at Publisher · View at Google Scholar · View at Scopus
  20. Z. M. Ahmed, S. Riazuddin, S. Aye et al., “Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome,” Human Genetics, vol. 124, no. 3, pp. 215–223, 2008. View at Publisher · View at Google Scholar · View at Scopus
  21. 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
  22. T. Jaijo, A. Oshima, E. Aller et al., “Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I,” Molecular Vision, vol. 18, pp. 1719–1726, 2012. View at Google Scholar
  23. H. Yoshimura, M. Miyagawa, K. Kumakawa, S. Y. Nishio, and S. Usami, “Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing,” Journal of Human Genetics, vol. 61, no. 5, pp. 419–422, 2016. View at Publisher · View at Google Scholar · View at Scopus
  24. L. M. Astuto, M. D. Weston, C. A. Carney et al., “Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I,” American Journal of Human Genetics, vol. 67, no. 6, pp. 1569–1574, 2000. View at Publisher · View at Google Scholar · View at Scopus
  25. Y. Ma, Y. Xiao, F. Zhang et al., “Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a Chinese family,” International Journal of Pediatric Otorhinolaryngology, vol. 83, pp. 179–185, 2016. View at Publisher · View at Google Scholar · View at Scopus
  26. M. W. Luijendijk, E. Van Wijk, A. M. Bischoff et al., “Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11),” Human Genetics, vol. 115, no. 2, pp. 149–156, 2004. View at Publisher · View at Google Scholar · View at Scopus
  27. X. Gao, G. J. Wang, Y. Y. Yuan et al., “Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family,” PLoS One, vol. 9, no. 7, article e103415, 2014. View at Publisher · View at Google Scholar · View at Scopus
  28. H. Yoshimura, S. Iwasaki, S. Y. Nishio et al., “Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1,” PLoS One, vol. 9, no. 3, article e90688, 2014. View at Publisher · View at Google Scholar · View at Scopus