Spectrum and Frequency of the GJB2 Gene Mutations Among Latvian Patients with Prelingual Nonsyndromic Hearing Loss
By: Olga Šterna, Natālija Proņina, Ieva Grīnfelde, Sandra Kušķe, Astrīda Krūmiņa, Rita Lugovska and Aigars Pētersons
Open Access
|Nov 2009References
- Anonymous (2009). Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 2009. [PUBMED]
- Antoniadi, T., Gronskov, K., Sand A., Pampanos, A., Brondum-Nielsen, K., Petersen, M.B. (2000). Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness. Hum Mutat., 16(1), 7-12.
- Ballana, E., Ventayol, M., Rabionet, R., Gasparini, P., Estivill, X. (2009). Connexins and deafness http://www.crg.es/deafness
- Baris I., Kilinc M.O., Tolun A. (2001). Frequency of the 35delG mutation in the connexin 26 gene in Turkish hearing-impaired patients. Clinical Genet., 60 (6), 452-455.
- del Castillo, I., Villamar, M., Moreno-Pelayo, M.A., del Castillo, F.J., Alvarez, A., Tellería, D., Menéndez, I., Moreno, F. (2002). A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. New Engl. J. Med., 24; 346(4), 243-249.
- del Castillo, F.J., Rodríguez-Ballesteros, M., Alvarez A., Hutchin, T., Leonard, E., de Oliveira, C.A., Azaiez, H., Brownstein, Z., Avenarius, M.R., Marlin, S., Pandya, A., Shahin, H., Siemering, K.R., Weil, D., Wuyts, W., Aguirre, L.A., Martín, Y., Moreno-Pelayo, M.A., Villamar, M., Avraham, K.B., Dahl, H-H. M., Kanaan, M., Nance, W.E., Petit, C., Smith, R.J.H., Van Camp, G., Sartorato, E.L., Murgia, A., Moreno, F., del Castillo, I. (2005). A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J. Med. Gen., 42(7), 588-594.
- Cohn, E.S., Kelley, P.M. (2000). Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss. Amer. J. Hum. Genet., 89(3), 130-136.
- Denoyelle, F., Weil, D., Maw, M.A., Wilcox, S.A., Lench, N.J., Allen-Powell, D.R., Osborn, A.H., Dahl, H.H., Middleton, A., Houseman, M.J., Dode, C., Marlin, S., Boulila-ElGaied, A., Grati, M., Ayadi, H., BenArab, S., Bitoun, P., Lina-Granade, G., Godet, J., Mustapha, M., Loiselet, J., El-Zir, E., Aubois, A., Joannard, A., Petit, C., et al. (1997). Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene. Hum. Mol. Genet., 6(12), 2173-2177.
- Estivill, X., Fortina, P., Surrey, S., Rabionet, R., Melchionda, S., D'Agruma, L., Mansfield, E., Rappaport, E., Govea, N., Milàf, M., Zelante, L., Gasparini, P. (1998). Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet, 351, 394-398.
- Falk, M.M., Gilula, N.B. (1998). Connexin membrane protein biosynthesis is influenced by polypeptide positioning within the translocon and signal peptidase access. J. Biol. Chem., 273(14), 7856-7864.
- Feldmann, D., Denoyelle, F., Chauvin, P., Garabedian, E.N., Couderc, R., Odent, S., Joannard, A., Schmerber, S., Delobel, B., Lema, J., Journel, H., Catros, H., Marechal, C.L., Dollfus, H., Eliot, M.M., Delaunoy, J.P., David, A., Calai, C., Drouin-Garraud, V., Obstoy, M.F., Bouccara, D., Sterkers, O., Huy, P.T., Goizet, C., Duriez, F., Fellmann, F., Helias, J., Vigneron, J. Montaut, B., Lewin, P., Petit, C., Marlin, S. (2004). Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis. Amer. J. Med. Genet., 127A(3), 263-267.
- Frei, K., Szuhai, K., Lucas, T., Weipoltshammer, K., Schofer, C., Ramsebner, R., Baumgartner, W.D., Raap, A.K., Bittner, R., Wachtler, F.J., Kirschhofer, K. (2002). Connexin 26 mutations in cases of sensorineural deafness in eastern Austria. Eur. J. Hum. Genet., 10(7), 427-432.
- Gasparini, P., Rabionet, R., Barbujani, G., Melchionda, S., Petersen, M., Brondum-Nielsen, K., Metspalu, A., Oitmaa, E., Pisano, M., Fortina, P., Zelante, L., Estivill, X. (2000). High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur. J. Hum. Genet., 8(1), 19-23.
- Green, G.E., Scott, D.A., McDonald, J.M., Woodworth, G.G., Sheffield, V.C., Smith, R.J. (1999). Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA, 281(23), 2211-2216.
- Guilford, P., Ben Arab, S., Blanchard, S., Levilliers, J., Weissenbach, J., Belkahia, A., Petit, C. (1994). A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nature Genet., 6, 24-28.
- Hwa, H.L., Ko, T.M., Hsu, C.J., Huang, C.H., Chiang, Y.L., Oong, J.L., Chen, C.C., Hsu, C.K. (2003). Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness. Genet. Med., 5(3), 161-165.
- Kelley, P.M., Harris, D.J., Comer, B.C., Askew, J.W., Fowler, T., Smith, S.D., Kimberling, W.J. (1998). Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Amer. J. Hum. Genet., 62(4), 792-799.
- Kelsell, D.P., Dunlop, J., Stevens, H.P., Lench, N.J., Liang, J.N., Parry, G., Mueller, R.F., Leigh, I.M. (1997). Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature, 387, 80-83.
- Lerer, I., Sagi, M., Ben-Neriah, Z., Wang, T., Levi, H., 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, 460-460.
- Liu, X.Z., Xia, X.J., Ke, X.M., Ouyang, X.M., Du, L.L., Liu, Y.H., Angeli, S., Telischi, F.F., Nance, W.E., Balkany, T., Xu, L.R. (2002). The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Hum. Genet., 111(4-5), 394-397.
- Morell, R.J., Kim, H.J., Hood, L.J., Goforth, L., Friderici, K., Fisher, R., Van Camp, G., Berlin, C.I., Oddoux, C., Ostrer, H., Keats, B., Friedman, T.B. (1998). Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. New Engl. J. Med., 339(21), 1500-1555.
- Morton, C.C., Nance. W.E. (2006). Newborn hearing screening — a silent revolution. New Engl. J. Med., 354, 2151-2164.
- Orzan, E., Murgia, A., Polli, R., Martella, M., Mazza, A., Zacchello, F., Babighian, G. (2002). Connexin 26 preverbal hearing impairment: Mutation prevalence and heterozygosity in a selected population. Int. J. Audiol., 41(2), 120-124.
- Pampanos, A., Economides, J., Iliadou, V., Neou, P., Leotsakos, P., Voyiatzis, N., Eleftheriades, N., Tsakanikos, M., Antoniadi, T., Hatzaki, A., Konstantopoulou, I., Yannoukakos, D., Gronskov, K., Brondum-Nielsen, K., Grigoriadou, M., Gyftodimou, J., Iliades, T., Skevas, A., Petersen, M.B. (2002). Prevalence of GJB2 mutations in prelingual deafness in the Greek population. Int. J. Pediatr. Otorhinolaryngol., 65(2), 101-108.
- Petit, C., Levilliers, J., Marlin, S., Hardelin, J.-P. (2001). Hereditary Hearing Loss. In: The Metabolic and Molecular Basis of Inherited Disease. 8th ed. (pp. 6281-6328). Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D. (eds.). New York: McGraw-Hill.
- Roux, A.F., Pallares-Ruiz, N., Vielle, A., Faugère, V., Templin, C., Leprevost, D., Artières, F., Lina, G., Molinari, N., Blanche, P., Mondain, M., Claustres, M. (2004). Molecular epidemiology of DFNB1 deafness in France. BMC Med. Genet., 5, 5.
- Sansovic, I., Knezevic, J., Matijevic, T., Balen, S., Barisic, I., Pavelic, J. (2005). Prevalence of the 35delG mutation in the GJB2 gene of patients with nonsyndromic hearing loss from Croatia. Genet. Test., 9(4), 297-300.
- Simsek, M., Al-Wardy, N., Al-Khabory, M. (2001). A polimerase chain reaction — restriction fragment length polymorphism (PCR - RFLP) test to detect the common mutation (35delG) in the connexin-26 gene. SQU J. Sci. Res.: Med. Sci., 1, 9-12.
- Smith, R.J., Van Camp, G. (2008). Nonsyndromic Hearing Loss and Deafness, DFNB1 [PUBMED]
- Snoeckx, R.L., Huygen, P.L., Feldmann, D. et al. (2005). GJB2 mutations and degree of hearing loss: A multicenter study. Amer. J. Hum. Genet., 77(6), 945-957.
- Teek, R., Rukas, E., Oitmaa, E., Kruustuk, K., Zordania, R., Joost, K., Schrijver, I., Gardner, P., Kull, M., Ounap, K. (2006). The genetic testing of early onset hereditary hearing loss among Estonian children. Labor. Med., 29(1), 105.
- Van Camp, G, Smith, R.J.H. (2009). Hereditary Hearing Loss Homepage. http://webh01.ua.ac.be/hhh/
- Wu, B.L., Lindeman, N., Lip, V., Adams, A., Amato, R.S., Cox, G., Irons, M., Kenn, M., Korf, B., Raisen, J., Platt, O. (2002). Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. Genet. Med., 4(4), 279-288.
Language: English
Page range: 198 - 203
Published on: Nov 6, 2009
Published by: Latvian Academy of Sciences
In partnership with: Paradigm Publishing Services
Related subjects:
© 2009 Olga Šterna, Natālija Proņina, Ieva Grīnfelde, Sandra Kušķe, Astrīda Krūmiņa, Rita Lugovska, Aigars Pētersons, published by Latvian Academy of Sciences
This work is licensed under the Creative Commons License.