Association of gjb2 gene mutations with non syndromic autosomal recessive deafness in different populations of the world

  • Authors

    • Shahid Hussain Mohammad Ali Jinnah University Islamabad
    • Mohammad Haroon Khan Mohammad Ali Jinnah University Islamabad
    • Muhammad Tahir Khan Mohammad Ali Jinnah University Islamabad
    • Shujah Zeb Mohammad Ali Jinnah University Islamabad
    • Muhammad Haseeb Mohammad Ali Jinnah University Islamabad
    • Asad Ullah Tariq Mohammad Ali Jinnah University Islamabad
    2014-12-01
    https://doi.org/10.14419/ijbas.v3i4.3233
  • Deafness, Conexin 26, GJB2, Meta-Analysis, NSHL.

  • Abstract

    Background: More than 90 variants of the GJB2 gene have been reported. Objectives: We analyzed the reported mutation data of hearing loss impairment from different countries through Meta-analysis to evaluate the influence of the mutations in GJB2 gene on the risk of NSHL and the differential distribution in its frequency as described in the previous studies. We were mainly concerned with the inclusion of dubious studies as they could lead to notorious outcomes. Methods: The data was retrieved from online databases with different keywords to include the data from 1997 to 2013. Full length papers were obtained wherever possible. A total of 22 case-control studies were included in the meta-analysis. Results: The analysis was performed for the total included data having 14254 patients and 9721/14254 patient cases with GJB2 mutation along with 3427 controls and 56/3427 mutant controls. Genetic association was measured by using the pooled odd ratios along with 95% CI (OR = 2.72, 95%CI: 2.48~2.97) by using the random effect model. The forest plot on the association of mutation carriers demonstrated that there was higher mutations prevalence in the case group. Most of the data points were located within 95%CI which indicates the association of mutation and increased risk of NSHL but showed variation within the regional disparity or ethnic specificity. Conclusions: The Meta-analysis was conducted in different ethnic group, the results showed a strong association of GJB2 mutations with the increased risk of hearing loss in the selected populations.

  • References

    1. N.E. Morton. Genetic epidemiology of hearing impairment, Ann NY Acad Sci 630 (1991) 16–31. http://dx.doi.org/10.1111/j.1749-6632.1991.tb19572.x.
    2. M.L. Marazita, L.M.Ploughman, B.Rawlings. Genetic epidemiological studies of early- onset deafness in the US school-age population. Am J Med Genet 46 (1993) 486–491. http://dx.doi.org/10.1002/ajmg.1320460504.
    3. M.B. Petersena, P.J. Willemsb. Non-syndromic, autosomalrecessive deafness, Clin Genet 69 (2006) 371-392. http://dx.doi.org/10.1111/j.1399-0004.2006.00613.x.
    4. M. Mukherjee, S.R. Phadke, B. Mittal. Connexin 26 and autosomal recessive non-syndromic hearing loss, Indian J. Hum Genet 9 (2003) 40-50.
    5. D.P. Kelsell, J. Dunlop, H.P.Stevens. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness, Nature 387 (1997) 80-83. http://dx.doi.org/10.1038/387080a0.
    6. P.M. Kelley, D.J. Harris, B.C. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 62 (1998) 792–799. http://dx.doi.org/10.1086/301807.
    7. P. Gasparini, R. Rabionet, G. Barbujani. High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG, Eur J Hum Genet 8 (2000) 19-23. http://dx.doi.org/10.1038/sj.ejhg.5200406.
    8. W.E. Nance, X.Z. Liu, A. Pandya. Relation between choice of partner and high frequency of connexin-26 deafness, Lancet 356 (2000) 500-501. http://dx.doi.org/10.1016/S0140-6736 (00)02565-4.
    9. L. Zelante, P. Gasparini, X. Estivill X. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 6 (1997) 1605-1609. http://dx.doi.org/10.1093/hmg/6.9.1605.
    10. G.E. Green, D.A. Scott, J.M. McDonald. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness, JAMA (16) 1999 2211-2216.
    11. H.J. Park, S. Hahn, Y. Chun. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope110 (2000) 1535–1538. http://dx.doi.org/10.1097/00005537-200009000-00023.
    12. S. Abe, S. Usami, H. Shinkawa H. Prevalent connexin 26 gene (GJB2) mutations in Japanese, J Med Genet 37 (2000) 41-43. http://dx.doi.org/10.1136/jmg.37.1.41.
    13. S. Marlin, E.N. Garabedian,G. Roger. Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling, Arch Otolaryngol Head Neck Surg 127 (2001) 927–933. http://dx.doi.org/10.1001/archotol.127.8.927.
    14. M. RamShankar, S. Girirajan, O. Dagan. Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India, J. Med. Genet 40 (2003) 68. http://dx.doi.org/10.1136/jmg.40.5.e68.
    15. Z.Z. Xiao, D.H. Xie DH. GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation, CMJ 117 (2004) 1797-1801.
    16. P.V. Ramchander, V.U. Nandur, K. Dwarakanath. Prevalence of Cx26 (GJB2) gene muta- tions causing recessive nonsyndromic hearing impairment in India, Int. J. Hum Genet 5 (2005) 241-246.
    17. B.H. Ruszymah, I.F. Wahida, Y. Zakinah, Z. Zahari, M.D. Norazlinda, L. Saim, B.S. Aminuddin. Congenital deafness: high prevalence of a V37I mutation in the GJB2 gene among deaf school children in Alor Setar, Med J Malaysia 60 (2005) 269-74.
    18. O. Abidi, B. Redouane, N. Halima N. GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation, Int. J. Pediatr. Otorhinolaryngol 71 (2007) 1239–1245. http://dx.doi.org/10.1016/j.ijporl.2007.04.019.
    19. A.C. Batissoco, R.S Abreu-Silva, M.C Braga MC. Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling, Ear Hear 30 (2009)1–7. http://hereditaryhearingloss.org/main.aspx?c=.HHH&n=86316 dated: 02/12/2013.
    20. D. Chen, X. Chen, K. Cao. High prevalence of the connexin26 (GJB2) mutation in Chinese cochlear implant recipients, ORL J Otorhinolaryngol Relat Spec 71 (2009) 212–215. http://dx.doi.org/10.1159/000229300.
    21. S.A. Zainal, M.K.H. Md-Daud, A.R. Normastura. DHPLC analysis of GJB2 gene among malays with non-syndromic hearing loss: preliminary results, Proceedings of the 8th Malaysia Congress on Genetics, 4-6 August 2009, Genting Highlands, Malaysia
    22. G. Padma, P.V.Ramchander, U.V.Nandur. GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment, J. Genet 88 (2009) 267–272. http://dx.doi.org/10.1007/s12041-009-0039-5.
    23. M. Tekin, X.J. Xia, R. Erdenetungalag, F.B. Cengiz. GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf, Ann Hum Genet 74 (2010)155 164. http://dx.doi.org/10.1111/j.1469-1809.2010.00564.x.
    24. K. Tsukada, S. Nishio, S. Usami. The Deafness Gene Study Consortium. A large cohort study of GJB2 mutations in Japanese hearing loss patients, Clin Genet 78 (2010) 464–470. http://dx.doi.org/10.1111/j.1399-0004.2010.01407.x.
    25. A. Hall, P. Marcus, L. Mark. Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study, BMJ Open 2012; 0:e001238/.
    26. K. Al-Sebeih , M. Al-Kandari ,S.A Al-Awadi. Connexin 26 Gene Mutations in Non- Syndromic Hearing Loss among Kuwaiti Patients, Med Princ Pract 23 (2014) 74-79. http://dx.doi.org/10.1159/000348304.
    27. N.A. Meguid NA, Omran MH, Dardir AA, et al. Study of 35delG in congenital sensorineural non-syndromic hearing loss in Egypt, J Appl Sci Res 4 (2008) 621-626.
    28. Q. Wei, S.Wang, J.Yao. Genetic mutations of GJB2 and mitochondrial 12S rRNA in non syndromic hearing loss in Jiangsu Province of China, J Transl Med 11 (2013) 163. http://dx.doi.org/10.1186/1479-5876-11-163.
    29. M. Miyagawa, S.Y. Nishio, S. Usami. Prevalence and clinical features of hearing loss patients with CDH23 mutations: large cohort study, PLoS One 7 (2012) e40366. http://dx.doi.org/10.1371/journal.pone.0040366.

  • Downloads

  • How to Cite

    Hussain, S., Khan, M. H., Khan, M. T., Zeb, S., Haseeb, M., & Tariq, A. U. (2014). Association of gjb2 gene mutations with non syndromic autosomal recessive deafness in different populations of the world. International Journal of Basic and Applied Sciences, 3(4), 521-526. https://doi.org/10.14419/ijbas.v3i4.3233

    Received date: 2014-07-22

    Accepted date: 2014-08-30

    Published date: 2014-12-01