Hostname: page-component-586b7cd67f-l7hp2 Total loading time: 0 Render date: 2024-11-22T13:16:05.097Z Has data issue: false hasContentIssue false
  • English
  • Français

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

Published online by Cambridge University Press:  22 November 2012

Ö Tarkan ,
P Sari ,
O Demirhan ,
M Kiroğlu ,
Ü Tuncer ,
Ö Sürmelioğlu ,
S Özdemir ,
M B Yilmaz  and
K Kara
Ö Tarkan*
Affiliation:
Department of Otolaryngology-Head and Neck Surgery, Cukurova University, Adana, Turkey
P Sari
Affiliation:
Department of Otolaryngology-Head and Neck Surgery, Cukurova University, Adana, Turkey
O Demirhan
Affiliation:
Department of Medical Biology and Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey
M Kiroğlu
Affiliation:
Department of Otolaryngology-Head and Neck Surgery, Cukurova University, Adana, Turkey
Ü Tuncer
Affiliation:
Department of Otolaryngology-Head and Neck Surgery, Cukurova University, Adana, Turkey
Ö Sürmelioğlu
Affiliation:
Department of Otolaryngology-Head and Neck Surgery, Cukurova University, Adana, Turkey
S Özdemir
Affiliation:
Department of Otolaryngology-Head and Neck Surgery, Cukurova University, Adana, Turkey
M B Yilmaz
Affiliation:
Department of Medical Biology and Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey
K Kara
Affiliation:
Department of Otolaryngology-Head and Neck Surgery, Cukurova University, Adana, Turkey
*
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: [email protected]
Get access Rights & Permissions [Opens in a new window]

Abstract

Objective:

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.

Results:

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.

Conclusion:

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

Keywords

ConnexinsHearing LossCochlear ImplantsHumansGJB2 Protein, HumanGJB6 Protein, Human
Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 127 , Issue 1 , January 2013 , pp. 33 - 37
Copyright
Copyright © JLO (1984) Limited 2012

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1 Morton, CC, Nance, WE. Newborn hearing screening – a silent revolution. N Engl J Med 2006;354:2151–64CrossRefGoogle ScholarPubMed
2 Abidi, O, Boulouiz, R, Nahili, H, Ridal, M, Alami, MN, Tlili, A et al. 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;71:1239–45CrossRefGoogle ScholarPubMed
3 Bariş, I, Kilinç, MO, Tolun, A. Frequency of the 35delG mutation in the connexin 26 gene in Turkish hearing-impaired patients. Clin Genet 2001;60:452–5CrossRefGoogle ScholarPubMed
4 Kikuchi, T, Kimura, RS, Paul, DL, Takasaka, T, Adams, JC. Gap junction systems in the mammalian cochlea. Brain Res Brain Res Rev 2000;32:163–6CrossRefGoogle ScholarPubMed
5 Green, GE, Mueller, RF, Cohn, ES, Avraham, KB, Moien, K, Smith, RJH. Audiological manifestations and features of connexin 26 deafness. Audiol Med 2003;1:5–11 CrossRefGoogle Scholar
6 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 paediatric Cochlear Implant Program. Int J Pediatr Otorhinolaryngol 2006;70:435–44CrossRefGoogle Scholar
7 Frei, K, Ramsebner, R, Lucas, T, Baumgartner, WD, Schoefer, C, Wachtler, JF et al. Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria. Hear Res 2004;196; 115–18CrossRefGoogle ScholarPubMed
8 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;14:263–63.0.CO;2-X>CrossRefGoogle ScholarPubMed
9 Kelsell, DP, Dunlop, J, Stevens, HP, Lench, NJ, Liang, JN, Parry, G et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997;387:80–3CrossRefGoogle ScholarPubMed
10 del Castillo, I, Villamar, M, Moreno-Pelayo, MA, del Castillo, FJ, Alvarez, A, Tellería, D et al. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med 2002;346:243–9CrossRefGoogle ScholarPubMed
11 Cohn, ES, Kelley, PM, Fowler, TW, Gorga, MP, Lefkowitz, DM, Kuehn, HJ et al. Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1). Pediatrics 1999;103:546–50CrossRefGoogle ScholarPubMed
12 Petersen, MB, Willems, PJ. Nonsyndromic autosomal recessive deafness. Clin Genet 2006;69:371–92CrossRefGoogle Scholar
13 Kenna, MA, Wu, BL, Cotanche, DA, Korf, BR, Rehm, HL. Connexin 26 studies in patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg 2001;127:1037–42CrossRefGoogle ScholarPubMed
14 Prasad, S, Cucci, RA, Green, GE, Smith, RJ. Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA). Hum Mutat 2000;16:502–83.0.CO;2-4>CrossRefGoogle ScholarPubMed
15 Liu, XZ, Xia, XJ, Ke, XM, Ouyang, XM, Du, LL, Liu, YH et al. The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Hum Genet 2002;111:394–7CrossRefGoogle ScholarPubMed
16 Ohtsuka, A, Yuge, I, Kimura, S, Namba, A, Abe, S, Van Laer, L et al. GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. Hum Genet 2003;112:329–33CrossRefGoogle Scholar
17 Hamelmann, C, Amedofu, GK, Albrecht, K, Muntau, B, Gelhaus, A, Brobby, GW et al. Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. Hum Mutat 2001;18:84–5CrossRefGoogle ScholarPubMed
18 Maheshwari, M, Vijaya, R, Ghosh, M, Shastri, S, Kabra, M, Menon, PS. 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:180–4CrossRefGoogle ScholarPubMed
19 Park, HJ, Hahn, SH, Chun, YM, Park, K, Kim, HN. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope 2000;110:1535–8CrossRefGoogle ScholarPubMed
20 Wang, YC, Kung, CY, Su, MC, Su, CC, Hsu, HM, Tsai, CC et al. Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan. Eur J Hum Genet 2002;10:495–8CrossRefGoogle ScholarPubMed
21 Kudo, T, Ikeda, K, Oshima, T, Kure, S, Tammasaeng, M, Prasansuk, S et al. GJB2 (connexin 26) mutations and childhood deafness in Thailand. Otol Neurotol 2001;22:858–61CrossRefGoogle ScholarPubMed
22 Morell, RJ, Kim, HJ, Hood, LJ, Goforth, L, Friderici, K, Fisher, R et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 1998;339:1500–5CrossRefGoogle ScholarPubMed
23 Tekin, M, Akar, N, Cin, S, Blanton, SH, Xia, XJ, Liu, XZ et al. Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians. Hum Genet 2001;108:385–99CrossRefGoogle ScholarPubMed
24 Tekin, M, Duman, T, Boğoçlu, G, Incesulu, A, Comak, E, Ilhan, I et al. Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating. Hum Mutat 2003;21:552–3CrossRefGoogle ScholarPubMed
25 Taitelbaum-Swead, R, Brownstein, Z, Muchnik, C, Kishon-Rabin, L, Kronenberg, J, Megirov, L et al. Connexin-associated deafness and speech perception outcome of cochlear implantation. Arch Otolaryngol Head Neck Surg 2006;132:495–500 CrossRefGoogle ScholarPubMed
26 del Castillo, I, Moreno-Pelayo, MA, del Castillo, FJ, Brownstein, Z, Marlin, S, Adina, Q et al. 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;73:1452–8CrossRefGoogle ScholarPubMed
27 Gazzaz, B, Weil, D, Raïs, L, Akhyat, O, Azeddoug, H, Nadifi, S. 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;210:80–4CrossRefGoogle ScholarPubMed
28 Chinetti, V, Iossa, S, Auletta, G, Laria, C, De Luca, M, Di Leva, F. Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss. Int J Audiol 2010;49:326–31CrossRefGoogle ScholarPubMed
29 Bhalla, S, Sharma, R, Khandelwal, G, Panda, NK, Khullar, M. Absence of GJB6 mutations in Indian patients with non-syndromic hearing loss. Int J Pediatr Otorhinolaryngol 2011;75:356–9CrossRefGoogle ScholarPubMed
30 Kalay, E, Çaylan, R, Kremer, H, Brouwer, APM, Karagüzel, A. GJB2 mutations in Turkish patients with ARNSHL: prevalance and two novel mutations. Hear Res 2005;203:88–93 CrossRefGoogle ScholarPubMed
31 Uyguner, O, Emiroglu, M, Uzumcu, A, Hafiz, G, Ghanbari, A, Baserer, N et al. Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss. Clin Genet 2003;64:65–9CrossRefGoogle ScholarPubMed
32 Wiley, S, Choo, D, Meinzen-Derr, J, Hilbert, L, Greinwald, J. GJB2 mutations and additional disabilities in a pediatric cochlear implant population. Int J Pediatr Otorhinolaryngol 2006;70:493–500 CrossRefGoogle Scholar
33 Daneshi, A, Hassanzadeh, S, Emamdjomeh, H, Mohammadi, SH, Arzhangi, S, Farhadi, M et al. Prevalence of GJB2-associated deafness and outcomes of cochlear implantation in Iran. J Laryngol Otol 2011;125:455–9CrossRefGoogle ScholarPubMed