Table of Contents Author Guidelines Submit a Manuscript
BioMed Research International
Volume 2014, Article ID 746838, 6 pages
http://dx.doi.org/10.1155/2014/746838
Research Article

Associations between GJB2, Mitochondrial 12S rRNA, SLC26A4 Mutations, and Hearing Loss among Three Ethnicities

1Department of Otolaryngology-Head and Neck Surgery, The Second Hospital of Lanzhou University, Lanzhou 730030, China
2Department of Otolaryngology-Head and Neck Surgery, Chinese People’s Liberation Army Institute of Otolaryngology, Chinese People’s Liberation Army General Hospital, Beijing 100039, China
3Health Department of Gansu Province, Lanzhou 730030, China

Received 27 February 2014; Accepted 11 March 2014; Published 2 April 2014

Academic Editor: Jareen Meinzen-Derr

Copyright © 2014 Wan Du 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. M. M. Cohen and R. J. Gorlin, “Epidemiology, etiology and genetic patterns,” in Hereditary Hearing Loss and Its Syndromes, R. J. Gorlin, H. V. Toriello, and M. M. Cohen, Eds., pp. 9–21, Oxford University Press, New York, NY, USA, 1995. View at Google Scholar
  2. M. Bitner-Glindzicz, “Hereditary deafness and phenotyping in humans,” British Medical Bulletin, vol. 63, pp. 73–94, 2002. View at Publisher · View at Google Scholar · View at Scopus
  3. 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
  4. P. Dai, X. Liu, D. Han et al., “Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness,” Biochemical and Biophysical Research Communications, vol. 340, no. 1, pp. 194–199, 2006. View at Publisher · View at Google Scholar · View at Scopus
  5. H. Zhao, R. Li, Q. Wang et al., “Maternally Inherited Aminoglycoside-Induced and Nonsyndromic Deafness Is Associated with the Novel C1494T Mutation in the Mitochondrial 12S rRNa Gene in a Large Chinese Family,” American Journal of Human Genetics, vol. 74, no. 1, pp. 139–152, 2004. View at Publisher · View at Google Scholar · View at Scopus
  6. S. Abe, T. Yamaguchi, and S.-I. Usami, “Application of deafness diagnostic screening panel based on deafness mutation/gene database using invader assay,” Genetic Testing, vol. 11, no. 3, pp. 333–340, 2007. View at Publisher · View at Google Scholar · View at Scopus
  7. P. Dai, F. Yu, B. Han et al., “Features of nationwide distribution and frequency of a common gap junction beta-2 gene mutation in China,” Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, vol. 42, no. 11, pp. 804–808, 2007. View at Google Scholar · View at Scopus
  8. A. Ohtsuka, I. Yuge, S. Kimura et al., “GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation,” Human Genetics, vol. 112, no. 4, pp. 329–333, 2003. View at Google Scholar · View at Scopus
  9. H.-L. Hwa, T.-M. Ko, C.-J. Hsu et al., “Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deagness,” Genetics in Medicine, vol. 5, no. 3, pp. 161–165, 2003. View at Publisher · View at Google Scholar · View at Scopus
  10. Y.-C. Wang, C.-Y. Kung, M.-C. Su et al., “Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan,” European Journal of Human Genetics, vol. 10, no. 8, pp. 495–498, 2002. View at Publisher · View at Google Scholar · View at Scopus
  11. K. Y. Lee, S. Y. Choi, J. W. Bae et al., “Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients,” International Journal of Pediatric Otorhinolaryngology, vol. 72, no. 9, pp. 1301–1309, 2008. View at Publisher · View at Google Scholar · View at Scopus
  12. I. Sansović, J. Knezević, V. Musani, P. Seeman, I. Barisić, and J. Pavelić, “GJB2 mutations in patients with nonsyndromic hearing loss from Croatia,” Genetic Testing and Molecular Biomarkers, vol. 13, no. 5, pp. 693–699, 2009. View at Google Scholar · View at Scopus
  13. O. Abidi, R. Boulouiz, H. Nahili et al., “Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan population,” Genetic Testing, vol. 12, no. 4, pp. 569–574, 2008. View at Publisher · View at Google Scholar · View at Scopus
  14. T. Hutchin, N. N. Coy, H. Conlon et al., “Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK—implications for genetic testing,” Clinical Genetics, vol. 68, no. 6, pp. 506–512, 2005. View at Publisher · View at Google Scholar · View at Scopus
  15. G. W. Brobby, B. Muller-Myhsok, and R. D. Horstmann, “Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa,” The New England Journal of Medicine, vol. 338, no. 8, pp. 548–550, 1998. View at Publisher · View at Google Scholar · View at Scopus
  16. P. Dai, F. Yu, B. Han et al., “GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment,” Journal of Translational Medicine, vol. 7, p. 26, 2009. View at Google Scholar
  17. D. Yan, H.-J. Park, X. M. Ouyang et al., “Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians,” Human Genetics, vol. 114, no. 1, pp. 44–50, 2003. View at Publisher · View at Google Scholar · View at Scopus
  18. P. Dai, F. Yu, B. Han et al., “The prevalence of the 235delC GJB2 mutation in a Chinese deaf population,” Genetics in Medicine, vol. 9, no. 5, pp. 283–289, 2007. View at Publisher · View at Google Scholar · View at Scopus
  19. P. Gasparini, R. Rabionet, G. Barbujani et al., “High carrier frequency of the 35delG deafness mutation in European populations,” European Journal of Human Genetics, vol. 8, no. 1, pp. 19–23, 2000. View at Publisher · View at Google Scholar · View at Scopus
  20. Q. Li, P. Dai, D.-L. Huang et al., “Prevalence of GJB2 mutations in Uigur and Han ethnic populations with deafness in Xinjiang region of China,” Zhonghua Yi Xue Za Zhi, vol. 87, no. 42, pp. 2977–2981, 2007. View at Google Scholar · View at Scopus
  21. X. Tang, L. Yang, Y. Zhu et al., “Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation,” Gene, vol. 393, no. 1-2, pp. 11–19, 2007. View at Publisher · View at Google Scholar · View at Scopus
  22. T. R. Prezant, J. V. Agapian, M. C. Bohlman et al., “Mitochondrial ribosomal RNA mutation associated with both antibiotic- induced and non-syndromic deafness,” Nature Genetics, vol. 4, no. 3, pp. 289–294, 1993. View at Publisher · View at Google Scholar · View at Scopus
  23. F. Yu, P. Dai, D. Y. Han et al., “233-235delC mutation analysis of GJB2 gene in non-syndromic hearing impairment patients from China,” Archives of Otolaryngology—Head and Neck Surgery, vol. 4, pp. 223–226, 2006 (Chinese). View at Google Scholar
  24. V. Dalamón, V. Lotersztein, A. Béhèran et al., “GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired argentinean population,” Audiology and Neurotology, vol. 15, no. 3, pp. 194–202, 2010. View at Publisher · View at Google Scholar · View at Scopus
  25. R. Utrera, V. Ridaura, Y. Rodríguez et al., “Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss,” Genetic Testing, vol. 11, no. 4, pp. 347–352, 2007. View at Publisher · View at Google Scholar · View at Scopus
  26. R. Li, J. H. Greinwald Jr., L. Yang, D. I. Choo, R. J. Wenstrup, and M.-X. Guan, “Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss,” Journal of Medical Genetics, vol. 41, no. 8, pp. 615–620, 2004. View at Google Scholar · View at Scopus
  27. Y.-G. Yao, Q.-P. Kong, C.-Y. Wang, C.-L. Zhu, and Y.-P. Zhang, “Different matrilineal contributions to genetic structure of ethnic groups in the Silk Road region in China,” Molecular Biology and Evolution, vol. 21, no. 12, pp. 2265–2280, 2004. View at Publisher · View at Google Scholar · View at Scopus
  28. P. Dai, Y. Yuan, D. Huang et al., “Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis,” Journal of Translational Medicine, vol. 6, article 74, 2008. View at Publisher · View at Google Scholar · View at Scopus
  29. R. Du, C. Xiao, and L. L. Cavalli-Sforza, “Genetic distances between Chinese populations calculated on gene frequencies of 38 loci,” Science in China C: Life Sciences, vol. 40, no. 6, pp. 613–621, 1997. View at Google Scholar · View at Scopus