Acta Medica Iranica 2014. 52(8):638-640.

A novel compound heterozygous mutation (35delG, 363delC) in the Connexin 26 gene causes non-syndromic autosomal recessive hearing loss.
Habib Onsori, Mohammad Rahmati, Davood Fazli


Mutations in the Connexin 26 (Cx26) gene are a common cause of hereditary hearing loss in different populations. In the present study, an Iranian patient with bilateral hearing loss underwent molecular analysis for the causative mutation. DNA studies were performed for the Cx26 gene by PCR and sequencing methods. We describe a novel compound heterozygous mutation (35delG, 363delC) in the Cx26 gene that is strongly associated with congenital non-syndromic hearing loss (NSHL).


Connexin 26; Hearing loss; Novel mutation; Case report

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Hashemzadeh Chaleshtori M, Farhud DD, Taylor R, et al. Deafness–Associated Connexin 26 Gene (GJB2) Mutations in Iranian Population. Iranian J Publ Health 2002;31(3-4):75-9.

Ito T, Noguchi Y, Yashima T, et al. Hereditary Hearing Loss and Deafness Genes in Japan. J Med Dent Sci 2010;57(1):1-10.

Hwa HL, Ko KM, Hsu CJ, et al. Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients withprelingual deafness. Genet Med 2003;5(3):161-5.

Chan DK, Schrijver I, Chang KW. Connexin-26– associated deafness: Phenotypic variability and progression of hearing loss. Genet Med 2010;12(3):174-81.

Frei K, Szuhai K, Lucas T, et al. Connexin 26 mutations in cases of sensorineural deafness in eastern Austria. Eur J Hum Genet 2002;10(7):427-32.

Wilcox SA, Osborn AH, Allen-Powell DR, et al. Connexin26 deafness in several interconnected families. J Med Genet 1999;36(5):383-5.

Pandya A, Arnos KS, Xia XJ, et al. Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Med 2003;5(4):295-303.

Hamid M, Karimipoor M, Hashemzadeh M, et al. A novel 355–357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients. J Genet 2009;88(3):359-62.

Hashemzadeh Chaleshtori M, Montazer Zohour M, Hoghooghi Rad L, et al. Autosomal Recessive and Sporadic Non-Syndromic Hearing Loss and the Incidence of Cx26 Mutations in a Province of Iran. Iranian J Publ Health 2006;35(1):88-91.

Al-Achkar W, Moassass F, Al-Halabi B, et al. Mutations of the Connexin 26 gene in families with non-syndromic hearing loss. Mol Med Rep 2011;4(2):331-5.

Morell RJ, Kim HJ, Hood LJ, et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi jews with non-syndromic recessive deafness. N Engl J Med 1998;339(21):1500-5.

White TW. Functional analysis of human Cx26 mutations associated with deafness. Brain Res Rev 2000;32(1):181-3.

Saremi MA, Saremi M, Tavallaei M. Rapid Genomic DNA Extraction (RGDE). Protocol Online. (Accessed in Mar 2014, 16, at http://www.protocolonline. org/files/protocol_4791.pdf).

Naghavi A, Nishimura C, Kahrizi K, et al. GJB2 mutations in Baluchi population. J GENET 2008;87(2):195-7.

Abe S, Usami S, Shinkawa H, et al. Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet 2000;37(1):41-3.

Ballana E, Ventayol M, Rabionet R, et al. Connexins and deafness. CRG. (Accessed in Mar 2014, 16, at


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