Display options
Cite
Godbole K, Hemavathi J, Vaid N, et al. Low prevalence of GJB2 mutations in non-syndromic hearing loss in Western India. Indian J Otolaryngol Head Neck Surg. 2010;62(1):60-3doi: 10.1007/s12070-010-0009-5.
Godbole, K., Hemavathi, J., Vaid, N., Pandit, A. N., Sandeep, M. N., & Chandak, G. R. (2010). Low prevalence of GJB2 mutations in non-syndromic hearing loss in Western India. Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India, 62(1), 60-3. https://doi.org/10.1007/s12070-010-0009-5
Godbole, Koumudi, et al. "Low prevalence of GJB2 mutations in non-syndromic hearing loss in Western India." Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India vol. 62,1 (2010): 60-3. doi: https://doi.org/10.1007/s12070-010-0009-5
Godbole K, Hemavathi J, Vaid N, Pandit AN, Sandeep MN, Chandak GR. Low prevalence of GJB2 mutations in non-syndromic hearing loss in Western India. Indian J Otolaryngol Head Neck Surg. 2010 Jan;62(1):60-3. doi: 10.1007/s12070-010-0009-5. Epub 2010 Jun 04. PMID: 23120683; PMCID: PMC3450147.
Copy Download .nbib Format: NLM
Share it on

Indian J Otolaryngol Head Neck Surg. 2010 Jan;62(1):60-3. doi: 10.1007/s12070-010-0009-5. Epub 2010 Jun 04.

Low prevalence of GJB2 mutations in non-syndromic hearing loss in Western India.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India

Koumudi Godbole, J Hemavathi, Neelam Vaid, Anand N Pandit, M N Sandeep, G R Chandak

Affiliations

  1. Department of Pediatrics, K.E.M. Hospital, Rasta Peth, Pune, 411011 India.

PMID: 23120683 PMCID: PMC3450147 DOI: 10.1007/s12070-010-0009-5

Abstract

OBJECTIVES: To identify the prevalence of GJB2 (Cx 26)and GJB6 (Cx 30) mutations in hearing impaired individuals from Western and South India.

STUDY DESIGN: Cross-sectional study.

METHODS: Families with hearing impaired individuals (prelingual, non-syndromic, sensori-neural hearing loss) were enrolled and genomic DNA was extracted. Primers were designed for amplifying the coding and non-coding exons including flanking splice sites of the Cx 26 gene. Probands heterozygous or negative for Cx 26 mutations were further analyzed for the 342Kb deletion encompassing D13S1830 microsatellite marker on Cx 30.

RESULTS: Two hundred and eighty-eight patients were enrolled in the study and 116 (40.3%) were diagnosed to have mutations in the coding exon 2 of Cx 26 gene. Fifty-four (18.8%) probands were found to have mutations in both the alleles while the remaining 62 (21.5%) were heterozygous for Cx 26 mutations. W24X, and W77X were the common mutations identified. The prevalence of familial deafness was similar in both consanguineous and non-consanguineous families (33% and 34.9% respectively). Mutations in the non-coding exon 1 and intron 1 as well as the 342 kb deletion involving D13S1830 marker on Cx 30 were ruled out in two hundred and thirty-four deaf individuals carrying none or only one mutation in the exon 2 of Cx 26 gene.

CONCLUSION: Cx30 mutations do not contribute to the autosomal recessive non-syndromic hearing loss (NSHL) in the Indian population. Homozygous Cx26 mutations account only for about 1/5th (18.8%) of autosomal recessive non-syndromic hearing implying the need to explore other contributory loci.

Keywords: Genetics; Non-syndromic hearing loss

References

  1. Am J Hum Genet. 2003 Dec;73(6):1452-8 - PubMed
  2. J Med Genet. 2000 Jan;37(1):41-3 - PubMed
  3. Am J Med Genet A. 2005 Mar 1;133A(2):132-7 - PubMed
  4. Ann Hum Genet. 2005 Jan;69(Pt 1):9-14 - PubMed
  5. Am J Med Genet A. 2005 Sep 1;137A(3):255-8 - PubMed
  6. Annu Rev Genet. 2001;35:589-646 - PubMed
  7. Hear Res. 2005 Dec;210(1-2):80-4 - PubMed
  8. Eur J Hum Genet. 2000 Jan;8(1):19-23 - PubMed
  9. Eur J Hum Genet. 2009 Apr;17(4):502-9 - PubMed
  10. Clin Genet. 2005 Jan;67(1):61-8 - PubMed
  11. Am J Physiol Cell Physiol. 2007 Sep;293(3):C1032-48 - PubMed
  12. J Med Genet. 2003 May;40(5):e68 - PubMed
  13. Hum Mutat. 2001 Nov;18(5):460 - PubMed
  14. Am J Med Genet A. 2003 Aug 30;121A(2):102-8 - PubMed
  15. Biochem Biophys Res Commun. 2009 Jul 31;385(3):445-8 - PubMed
  16. Hum Mutat. 2000 Sep;16(3):190-202 - PubMed
  17. Am J Hum Genet. 2006 Jan;78(1):137-43 - PubMed
  18. Hear Res. 2004 Oct;196(1-2):115-8 - PubMed
  19. Indian J Pediatr. 2004 Jun;71(6):531-3 - PubMed
  20. J Hum Genet. 2002;47(12):688-90 - PubMed

Publication Types