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

Journal of Laryngology and Otology

Volumn 127, Issue 1, 2013, Pages 33-37

  Tarkan, O ^a   Sari, P ^a   Demirhan, O ^a   Kiroglu M ^a   Tuncer, U ^a   Surmelioglu O ^a   Ozdemir S ^a   Yilmaz, M B ^a   Kara, K ^a  

^a CUKUROVA UNIVERSITY   (Turkey)

Author keywords

Cochlear Implants; Connexins; GJB2 Protein, Human; GJB6 Protein, Human; Hearing Loss; Humans

Indexed keywords

CONNEXIN 26; CONNEXIN 30; DNA;

ARTICLE; BLOOD SAMPLING; CONGENITAL DEAFNESS; CONGENITAL NONSYNDROMIC HEARING LOSS; DNA EXTRACTION; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; IMPLANTATION; INFANT; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; PERCEPTION DEAFNESS; TURKEY (REPUBLIC);

ADOLESCENT; CHILD; CHILD, PRESCHOOL; COCHLEAR IMPLANTATION; CONNEXINS; DNA; ENZYME-LINKED IMMUNOSORBENT ASSAY; FEMALE; GENE FREQUENCY; GENOTYPE; HEARING LOSS; HUMANS; INFANT; MALE; MUTATION; POLYMERASE CHAIN REACTION; RETROSPECTIVE STUDIES; TURKEY;

EID: 84872279468     PISSN: 00222151     EISSN: 17485460     Source Type: Journal    
DOI: 10.1017/S0022215112002587     Document Type: Article

References (33)

1. Morton CC, Nance WE. Newborn hearing screening - a silent revolution. N Engl J Med 2006;354: 2151-64 (Pubitemid 43736615)
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: 1239-45 (Pubitemid 47016668)
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: 452-5 (Pubitemid 34083261)
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: 163-6 (Pubitemid 30177319)
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 (Pubitemid 38436148)
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 PediatrOtorhinolaryngol 2006;70: 435-44 (Pubitemid 43155186)
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;115-18 (Pubitemid 39302649)
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: 263-6 (Pubitemid 29407268)
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: 80-3 (Pubitemid 27202653)
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: 243-9 (Pubitemid 34438863)
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: 546-50 (Pubitemid 29274498)
12. Petersen MB, Willems PJ. Nonsyndromic autosomal recessive deafness. Clin Genet 2006;69: 371-92
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: 1037-42 (Pubitemid 32848178)
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: 502-8 (Pubitemid 32001299)
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: 394-7 (Pubitemid 36075066)
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: 329-33 (Pubitemid 36869059)
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: 84-5
18. Maheshwari M, Vijaya R, Ghosh M, Shastri S, KabraM, 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: 180-4 (Pubitemid 37063794)
19. Park HJ, Hahn SH, Chun YM, Park K, Kim HN. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope 2000;110: 1535-8
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: 495-8
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: 858-61 (Pubitemid 33101337)
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: 1500-5 (Pubitemid 28543498)
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: 385-99
24. Tekin M, Duman T, Boǧoçlu 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: 552-3
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 (Pubitemid 43742566)
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: 1452-8 (Pubitemid 38037436)
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: 80-4 (Pubitemid 41628133)
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: 326-31
29. Bhalla S, Sharma R, Khandelwal G, Panda NK, Khullar M. Absence of GJB6 mutations in Indian patients with nonsyndromic hearing loss. Int J Pediatr Otorhinolaryngol 2011; 75: 356-9
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 (Pubitemid 40602818)
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 nonsyndromic hearing loss. Clin Genet 2003;64: 65-9 (Pubitemid 36949951)
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 (Pubitemid 43155194)
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: 455-9