High incidence of GJB2 gene mutations among assortatively mating hearing impaired families in Kerala: future implications
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Keywords
GJB2 mutations connexin 26 protein assortative mating hearing impairment non-complementary mating KeralaNotes
Acknowledgements
We are grateful to all the families for their participation. This study was supported by major research grant from the University Grants Commission, and Ad-hoc research project of Indian Council of Medical Research, Government of India to CRS and University Industry Community Interaction Centre (UICIC) Program of University of Madras. AP is a senior research fellow of ICMR project and JMJ was a junior research fellow of the UGC Major Grant.
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References
- Arnos K. S., Welch K. O., Tekin M., Norris V. W., Blanton S. H., Pandya A. and Nance W. E. 2008 A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart. Am. J. Hum. Genet. 83, 200–207.PubMedCentralPubMedCrossRefGoogle Scholar
- Joseph A. Y. and Rasool T. J. 2009 High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India. Int. J. Pediatr. Otorhinolaryngol. 73, 437–443.PubMedCrossRefGoogle Scholar
- Kelsell D. P., Dunlop J., Stevens H. P., Lench N. J., Liang J. N., Parry G. et al. 1997 Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387, 80–83.PubMedCrossRefGoogle Scholar
- Mani R. S., Ganapathy A., Jalvi R., Srikumari Srisailapathy C. R., Malhotra V., Chadha S. et al. 2009 Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss. Eur. J. Hum. Genet. 17, 502–509.PubMedCentralPubMedCrossRefGoogle Scholar
- Morton C. C. 2002 Genetics, genomics and gene discovery in the auditory system. Hum. Mol. Genet. 11, 1229–1240.PubMedCrossRefGoogle Scholar
- Morton C. C. and Nance W. E. 2006 Newborn hearing screening–a silent revolution. N. Eng. J. Med. 354, 2151–2164.CrossRefGoogle Scholar
- Nance W. E. and Kearsey M. J. 2004 Relevance of connexin deafness (DFNB1) to human evolution. Am. J. Hum. Genet. 74, 1081–1087.PubMedCentralPubMedCrossRefGoogle Scholar
- Nance W. E., Liu X. Z. and Pandya A. 2000 Relation between choice of partner and high frequency of connexin-26 deafness. Lancet 356, 500–501.PubMedCrossRefGoogle Scholar
- Ramshanker M., Girirajan S., Dagan O., Ravi Shanker H. M., Jalvi R., Rangasayee R. et al. 2003 Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India. J. Med. Genet. e68, 1–6.Google Scholar
- Reddy M.V.V., Bindhu L. H., Reddy P. P. and Usha Rani P. 2006 Role of consanguinty in congenital neurosensory deafness. Int. J. Hum. Genet. 6, 357–358.Google Scholar
- Sambrook J., Fritsch E. F. and Maniatis T. 1989 Molecular cloning: a laboratory manual, 2nd edition, vol. 3, pp. e3–e4. Cold Spring Harbor Laboratory Press, New York, USA.Google Scholar
- Scott D. A., Kraft M. L., Carmi R., Ramesh A., Elbedour K., Yairi Y., Srisailapathy C. R. et al. 1998 Identification of mutations in the connexin 26 gene that cause autosomal recessive non-syndromic hearing loss. Hum. Mutat. 11, 387–394.PubMedCrossRefGoogle Scholar
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