GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment

Bitner-Glindzicz M. 2002 Hereditary deafness and phenotyping in humans. Br. Med. Bull. 63, 73–94.

Cryns K., Orzan E., Murgia A., Huygen P. L. M., Moreno F., del Castillo I. et al. 2004 A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J. Med. Genet. 41, 147–154.

del Castillo I., Villamar M., Moreno-Pelayo M. A., del Castillo F. J., Alvarez A., Telleria D. et al. 2002 A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N. Eng. J. Med. 346, 243–249.

Denoyelle F., Weil D., Maw M. A., Wilcox S. A., Lench N. J., Allen-Powell D. R. et al. 1997 Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum. Mol. Genet. 6, 2173–2177.

Denoyelle F., Marlin S., Weil D., Moatti L., Chauvin P., Garabedian E. N. and Petit C. 1999 Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 353, 1298–1303.

Estivill X., Fortina P., Surrey S., Rabionet R., Melchionda S., D’Agruma L. et al. 1998 Connexin 26 mutations in sporadic and inherited sensorineural deafness. Lancet 351, 394–398.

Green G. E., Scott D. A., McDonald J. M., Sheffield V. C. and Smith R. J. H. 1999 Carrier rates in the midwestern United States of GJB2 mutations causing inherited deafness. JAMA 281, 2211–2216.

Kelley P. M., Harris D. J., Comer B. C., Askew J. W., Fowler T., Smith S. D. and Kimberling W. J. 1998 Novel mutations in the connexin 26 gene (GJB2) that cause autossomal recessive (DFNB1) hearing loss. Am. J. Hum. Genet. 62, 792–799.

Kelsell D. P., Dunlop J., Stevens H. P., Lench N. J., Liang J. N., Parry G. et al. 1997 Connexin 26 mutations in hereditary nonsyndromic sensorineural deafness. Nature 387, 80–83.

Kudo T., Ikeda K., Kure S., Matsubara Y., Oshima T., Watanabe K. et al. 2000 Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. Am. J. Med. Genet. 90, 141–145.

Lahiri D. K. and Nurnberger J. R. J. I. 1991 A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res. 19, 5444.

Lautermann J., Frank H. G., Jahnke K., Traub O. and Winterhager E. 1999 Developmental expression patterns of connexin-26 and -30 in the rat cochlea. Dev. Genet. 25, 306–311.

Lench N., Houseman M., Newton V., Van Camp G. and Mueller R. 1998 Connexin-26 mutations in sporadic nonsyndromal sensorineural deafness. Lancet 351, 415.

Lerer I., Sagi M., Malamud E., Levi H., Rothschild A. R. and Abeliovich D. 2000 Contribution of connexin 26 mutations in non-syndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT. Am. J. Med. Genet. 95, 53–56.

Lerer I., Sagi M., Ben-Neriah Z., Wang T., Levi H. and Abeliovich D. 2001 A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: a novel founder mutation in Ashkenazi Jews. Hum. Mutat. 18, 460

Liu X. Z., Xia X. J., Ke X. M., Ouyang X. M., Du L. L., Liu Y. H. et al. 2002 The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Hum. Genet. 111, 394–397.

Mahasneh A. A. and Al-Asseer M. H. 2005 Screening of GJB6 gene for the 342-kb deletion in patients from Jordan with nonsyndromic hearing loss. Int. J. Hum. Genet. 5, 253–257.

Maheswari M., Vijaya R., Ghosh M., Shastri S., Kabra M. and Menon P. S. N. 2003 Screening of families with autosomal recessive nonsyndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario. Am. J. Med. Genet. 120, 180–184.

Mani R. S., Ganapathy A., Jalvi R., Srikumari Srisailapathy C. R., Malhotra V., Chadha S. et al. 2008 Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss. Eur. J. Hum. Genet. 17, 502–509.

Marlin S., Garabedian E-N., Roger G., Moatti L., Matha N., Lewin P. et al. 2001 Connexin 26 gene mutations in congenitally deaf children. Arch. Otolaryngol. Head Neck Surg. 127, 927–933.

Minarik G., Ferak V., Ferakova E., Ficek A., Polakova H. and Kadasi L. 2003 High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL). Gen. Physiol. Biophys. 22, 549–556.

Morell R., Kim J. J., Hood L. J., Goforth L., Friderici K., Fisher R. et al. 1998 Mutations in the Connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N. Engl. J. Med. 339, 1500–1505.

Morton C. C. and Nance W. E. 2006 Newborn hearing screening: a silent revolution. N. Engl. J. Med. 354, 2151–2164.

Najmabadi H., Cucci R. A., Sahebjam S., Kouchakian N., Farhadi M. and Kahrizi K. 2002 GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss. Hum. Mut. 19, 572.

Nance W. E. 2003 The genetics of deafness. Ment. Retard. Dev. Disabil. Res. Rev. 9, 109–119.

Pallares-Ruiz N., Blanchet P., Mondain M., Claustres M. and Roux A-F. 2002 A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? Eur. J. Hum. Genet. 10, 72–76.

Rabionet R., Gasparini P. and Estivill X. 2000 Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Hum. Mutat. 16, 190–202.

Ramchander P. V., Nandur V. U., Dwarakanath K., Vishnupriya S. and Padma T. 2005 Prevalence of Cx26 (GJB2) gene mutations causing recessive nonsyndromic hearing impairment in India. Int. J. Hum. Genet. 5, 241–246.

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. 40, e68.

Riazalhosseini Y., Nishimura C., Kahrizi K., Shafeghati Y., Daneshi A., Jogataie M-T. et al. 2005 Delta (GJB6-D13S1830) is not a common cause of non-syndromic hearing loss in the Iranian population. Arch. Iran. Med. 8, 104–108.

Santos R., Aulchenko Y., Huygen P., Donk K., Wijs I., Kemperman M. et al. 2005 Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations. Int. J. Pediatr. Otorhinolaryngol. 69, 165–174.

Scott D. A., Kraft M. L., Carmi R., Ramesh A., Elbedour K., Yairi Y. et al. 1998 Identification of mutations in the connexin 26 gene that cause autosomal recessive non-syndromic hearing loss. Hum. Mutat. 11, 487–494.

Seeman P. and Sakmoryova I. 2006 High prevalence of the IVS1+1 G-A/GJB2 mutation among Czech hearing impaired patients in the coding region of GJB2. Clin. Genet. 69, 410–413.

Sobe T., Erlich P., Berry A., Korostichevsky M., Vreugde S., Avraham K. B. et al. 1999 High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim. Am. J. Med. Genet. 86, 499–500.

Tekin M., Duman T., Bogochu G., Incesuslu A., Comak E., Fitoz S. et al. 2003 Spectrum of GJB2 mutations in Turkey comprising both caucasian and oriental variants: roles of parental consanguinity and assortative mating. Hum. Mutat. 21, 552–553.