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Connexin 26 and 30 mutations in paediatric patients with congenital, non-syndromic hearing loss treated with cochlear implantation in Mediterranean Turkey

  • Ö Tarkan (a1), P Sari (a1), O Demirhan (a2), M Kiroğlu (a1), Ü Tuncer (a1), Ö Sürmelioğlu (a1), S Özdemir (a1), M B Yilmaz (a2) and K Kara (a1)
  • DOI:
  • Published online: 22 November 2012

Mutations in the genes for connexin 26 (GJB2) and connexin 30 (GJB6) play an important role in autosomal recessive, non-syndromic hearing loss. This study aimed to detect the 35delG and 167delT mutations of the GJB2 gene and the del(GJB6-D13S1830) mutation of the GJB6 gene in paediatric patients diagnosed with congenital, non-syndromic hearing loss and treated with cochlear implantation in Mediterranean Turkey.

Materials and method:

We included 94 children diagnosed with congenital, non-syndromic hearing loss and treated with cochlear implantation. Blood samples were collected, DNA extracted and an enzyme-linked immunosorbent assay performed to enable molecular diagnosis of mutations.


Of the 94 children analysed, the 35delG mutation was detected in 12 (12.7 per cent): 10 (83.3 per cent) were homozygous and 2 (16.7 per cent) heterozygous mutant. The 167delT and del(GJB6-D13S1830) mutations were not detected.


The GJB2-35delG mutation is a major cause of congenital, non-syndromic hearing loss in this study population.

Corresponding author
Address for correspondence: Dr Özgür Tarkan, Department of Otolaryngology-Head and Neck Surgery, Faculty of Medicine, Cukurova University, Balcali Hospital,01330 Adana, Turkey Fax: +90 3223386639 E-mail:
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1CC Morton , WE. Nance Newborn hearing screening – a silent revolution. N Engl J Med 2006;354:2151–64

2O Abidi , R Boulouiz , H Nahili , M Ridal , MN Alami , A Tlili GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation. Int J Pediatr Otorhinolaryngol 2007;71:1239–45

3I Bariş , MO Kilinç , A. Tolun Frequency of the 35delG mutation in the connexin 26 gene in Turkish hearing-impaired patients. Clin Genet 2001;60:452–5

4T Kikuchi , RS Kimura , DL Paul , T Takasaka , JC. Adams Gap junction systems in the mammalian cochlea. Brain Res Brain Res Rev 2000;32:163–6

5GE Green , RF Mueller , ES Cohn , KB Avraham , K Moien , RJH. Smith Audiological manifestations and features of connexin 26 deafness. Audiol Med 2003;1:511

6EJ Propst , TL Stockley , KA Gordon , RV Harrison , BC. Papsin Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program. Int J Pediatr Otorhinolaryngol 2006;70:435–44

8K Storm , S Willocx , K Flothmann , G. Van Camp 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;14:263–6

9DP Kelsell , J Dunlop , HP Stevens , NJ Lench , JN Liang , G Parry Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997;387:80–3

10I del Castillo , M Villamar , MA Moreno-Pelayo , FJ del Castillo , A Alvarez , D Tellería A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med 2002;346:243–9

11ES Cohn , PM Kelley , TW Fowler , MP Gorga , DM Lefkowitz , HJ Kuehn Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1). Pediatrics 1999;103:546–50

12MB Petersen , PJ. Willems Nonsyndromic autosomal recessive deafness. Clin Genet 2006;69:371–92

13MA Kenna , BL Wu , DA Cotanche , BR Korf , HL. Rehm Connexin 26 studies in patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg 2001;127:1037–42

14S Prasad , RA Cucci , GE Green , RJ. Smith Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA). Hum Mutat 2000;16:502–8

15XZ Liu , XJ Xia , XM Ke , XM Ouyang , LL Du , YH Liu The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Hum Genet 2002;111:394–7

17C Hamelmann , GK Amedofu , K Albrecht , B Muntau , A Gelhaus , GW Brobby Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. Hum Mutat 2001;18:84–5

18M Maheshwari , R Vijaya , M Ghosh , S Shastri , M Kabra , PS. Menon Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario. Am J Med Genet A 2003;120A:180–4

19HJ Park , SH Hahn , YM Chun , K Park , HN Kim . Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope 2000;110:1535–8

20YC Wang , CY Kung , MC Su , CC Su , HM Hsu , CC Tsai Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan. Eur J Hum Genet 2002;10:495–8

21T Kudo , K Ikeda , T Oshima , S Kure , M Tammasaeng , S Prasansuk GJB2 (connexin 26) mutations and childhood deafness in Thailand. Otol Neurotol 2001;22:858–61

22RJ Morell , HJ Kim , LJ Hood , L Goforth , K Friderici , R Fisher Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 1998;339:1500–5

23M Tekin , N Akar , S Cin , SH Blanton , XJ Xia , XZ Liu Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians. Hum Genet 2001;108:385–99

24M Tekin , T Duman , G Boğoçlu , A Incesulu , E Comak , I Ilhan Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating. Hum Mutat 2003;21:552–3

25R Taitelbaum-Swead , Z Brownstein , C Muchnik , L Kishon-Rabin , J Kronenberg , L Megirov Connexin-associated deafness and speech perception outcome of cochlear implantation. Arch Otolaryngol Head Neck Surg 2006;132:495500

26I del Castillo , MA Moreno-Pelayo , FJ del Castillo , Z Brownstein , S Marlin , Q Adina Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet 2003;73:1452–8

27B Gazzaz , D Weil , L Raïs , O Akhyat , H Azeddoug , S. Nadifi Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant. Hear Res 2005;210:80–4

28V Chinetti , S Iossa , G Auletta , C Laria , M De Luca , F. Di Leva Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss. Int J Audiol 2010;49:326–31

29S Bhalla , R Sharma , G Khandelwal , NK Panda , M. Khullar Absence of GJB6 mutations in Indian patients with non-syndromic hearing loss. Int J Pediatr Otorhinolaryngol 2011;75:356–9

30E Kalay , R Çaylan , H Kremer , APM Brouwer , A. Karagüzel GJB2 mutations in Turkish patients with ARNSHL: prevalance and two novel mutations. Hear Res 2005;203:8893

31O Uyguner , M Emiroglu , A Uzumcu , G Hafiz , A Ghanbari , N Baserer Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss. Clin Genet 2003;64:65–9

32S Wiley , D Choo , J Meinzen-Derr , L Hilbert , J. Greinwald GJB2 mutations and additional disabilities in a pediatric cochlear implant population. Int J Pediatr Otorhinolaryngol 2006;70:493500

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