Detection of the GJB2 Mutation in Iranian Children with Hearing Loss Treated with Cochlear Implantation

Smith R, Van Camp G. Hereditary hearing loss home page. 2006 (cited April 2006). http://webh01.ua.ac.be/hhh/Search in Google Scholar

Bitner-Glindzicz M. Hereditary deafness and phenotyping in humans. Br Med Bull. 2002; 63(1): 73-94.10.1093/bmb/63.1.73Search in Google Scholar

Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Housman MJ, Dodé C, Marlin S, Boulila-ElGaïed 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, Levilliers J, Garabédian E, Mueller RF, Gardner RJ, Petit C. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet. 1997; 6(12): 2173-2177.10.1093/hmg/6.12.2173Search in Google Scholar

Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, Mansfield E, Rappaport E, Govea N, Milà M, Zelante L, Gasparini P. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet. 1998; 351(9100): 394-398.10.1016/S0140-6736(97)11124-2Search in Google Scholar

Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature. 1997; 387(6628): 80-83.10.1038/387080a0Search in Google Scholar

Kelsell DP, Di WL, Houseman MJ. Connexin mutations in skin disease and hearing loss. Am J Hum Genet. 2001; 68(3): 559-568.10.1086/318803Search in Google Scholar

Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, Milá M, Monica MD, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet. 1997; 6(9): 1605-1609.10.1093/hmg/6.9.1605Search in Google Scholar

Kumar NM, Gilula NB. The gap junction communication channel. Cell. 1996; 84(3): 381-388.10.1016/S0092-8674(00)81282-9Search in Google Scholar

Willecke K, Eiberger J, Degen J, Eckardt D, Romualdi A, Guldenagel M, Deutsch U, Söhl G. Structural and functional diversity of connexin genes in the mouse and human genome. Biol Chem. 2002; 383(5): 725-737.10.1515/BC.2002.07612108537Search in Google Scholar

Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement. Genet Med. 2002; 4(3): 162-171.10.1097/00125817-200205000-00011311094412180152Search in Google Scholar

Mafong DD, Shin EJ, Lalwani AK. Use of laboratory evaluation and radiologic imaging in the diagnostic evaluation of children with sensorineural hearing loss. Laryngoscope. 2002; 112(1): 1-7.10.1097/00005537-200201000-0000111802030Search in Google Scholar

Cross NC, Stephens SD, Francis M, Hourihan MD, Reardon W. Computed tomography evaluation of the inner ear as a diagnostic, counselling and management strategy in patients with congenital sensorineural hearing impairment. Clin Otolaryngol Allied Sci. 1999; 24(3): 235-238.10.1046/j.1365-2273.1999.00262.xSearch in Google Scholar

Kunst D, Kremer H, Cremers Cp. In: Kunst D, Kremer H, Cremers C, Eds. Genetics for ENT Specialists, 1st ed. London: Remedica. 2005: 1-13.Search in Google Scholar

Antoniadi T, Rabionet R, Kroupis C, Aperis G, Economides J, Petmezakis J, Economou-Petersen E, Estivill X, Petersen MB. High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness. Clin Genet. 1999; 55(5): 381-382.Search in Google Scholar

Storm K, Willocx S, Flothmann K, Van Camp G. Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method. Hum Mutat. 1999; 14(3): 263-266.10.1002/(SICI)1098-1004(1999)14:3<263::AID-HUMU10>3.0.CO;2-XSearch in Google Scholar

Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA. 1999; 281(23): 2211-2216.10.1001/jama.281.23.2211Search in Google Scholar

Propst EJ, Stockley TL, Gordon KA, Harrison RV, Papsin BC. Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian pediatric Cochlear Implant Program. Int J Pediatr Otorhinolaryngol. 2006; 70(3): 435-444.10.1016/j.ijporl.2005.07.013Search in Google Scholar

Najmabadi H, Nishimura C, Kahrizi K, Riazalhosseini Y, Malekpour M, Daneshi A, Farhadi M, Mohseni M, Mahdieh N, Ebrahimi A, Bazazzadegan N, Naghavi A, Avenrius M, Arzhangi S, Smith RJ. GJB2 mutations: passage through Iran. Am J Med Genet A. 2005; 133A(2): 132-137.10.1002/ajmg.a.30576Search in Google Scholar

del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Telleria D, Menéndex I, Moreno F. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med. 2002; 346(4): 243-249.10.1056/NEJMoa012052Search in Google Scholar

Simsek M, Al-Wardy N, Al-Khabory M. A seminested PCR test for simultaneous detection of two common mutations (35delG and 167delT) in the connexin-26 gene. Mol Diagn. 2001; 6(1): 63-67.10.2165/00066982-200106010-00008Search in Google Scholar

Fukushima K, Sugata K, Kasai N, Fukuda S, Nagayasu R, Toida N, Kimura N, Takishita T, Gunduz M, Nishizaki K. Better speech performance in cochlear implant patients with GJB2-related deafness. Int J Pediatr Otorhinolaryngol. 2002; 62(2): 151-157.10.1016/S0165-5876(01)00619-XSearch in Google Scholar

Jun AI, McGuirt WT, Hinojosa R, Green GE, Fischel-Ghodsian N, Smith RJ. Temporal bone histopathology in connexin 26-related hearing loss. Laryngoscope. 2000; 110(2, Part 1): 269-275.Search in Google Scholar