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Prevalence of GJB2-associated deafness and outcomes of cochlear implantation in Iran

Published online by Cambridge University Press:  31 January 2011

A Daneshi ,
S Hassanzadeh ,
H Emamdjomeh ,
S H Mohammadi ,
S Arzhangi ,
M Farhadi  and
H Najmabadi
A Daneshi*
Affiliation:
Head and Neck Surgery Department and Research Center, Iran University of Medical Sciences, Tehran, Iran
S Hassanzadeh
Affiliation:
Psychology and Education of Exceptional Children Department, Psychology and Education Faculty, University of Tehran, Tehran, Iran
H Emamdjomeh
Affiliation:
Head and Neck Surgery Department and Research Center, Iran University of Medical Sciences, Tehran, Iran
S H Mohammadi
Affiliation:
Head and Neck Surgery Department and Research Center, Iran University of Medical Sciences, Tehran, Iran
S Arzhangi
Affiliation:
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
M Farhadi
Affiliation:
Head and Neck Surgery Department and Research Center, Iran University of Medical Sciences, Tehran, Iran
H Najmabadi
Affiliation:
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
*
Address for correspondence: Dr Ahmad Daneshi, Head and Neck Surgery Department and Research Center, Iran University of Medical Sciences, Sattarkhan Avenue, Niayesh Street, Tehran, Iran E-mail: daneshi@daneshi.net
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Abstract

Objectives:

To investigate the prevalence of mutations in the coding exon of the GJB2 gene in Iranian children with cochlear implants, and to compare the outcomes of auditory perception and speech production in cochlear-implanted children with and without GJB2 mutation.

Materials and methods:

One hundred and sixty-six prelingually deaf children who had undergone cochlear implantation at the Iranian Cochlear Implant Center, Tehran, were selected from a pool of 428 implanted children. The prevalence of GJB2 gene mutations was assessed using nested polymerase chain reaction and direct sequencing. To enable comparisons, we also identified 36 implanted children with non-GJB2 deafness. Patients' speech perception and speech production were assessed using the Categorization of Auditory Performance and Speech Intelligibility Rating scales.

Results:

Thirty-three of 166 probands (19.9 per cent) were found to have GJB2 deafness-causing allele variants and were diagnosed with DFNB1 deafness. Results also indicated a significant improvement in speech perception and production scores in both GJB2 and non-GJB2 patients over time.

Conclusion:

Children with GJB2-related deafness benefit from cochlear implantation to the same extent as those with non-GJB2-related deafness.

Keywords

Cochlear ImplantationConnexin 26GJB2 geneAuditory PerceptionSpeech Discrimination

Information

Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 125 , Issue 5 , May 2011 , pp. 455 - 459
Copyright
Copyright © JLO (1984) Limited 2011

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References

1Estivill, X, Fortina, P, Surrey, S, Rabionet, R, Melchionda, S, D'Agruma, L et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998;351:394–8CrossRefGoogle ScholarPubMed
2Van Camp, G, Willems, PJ, Smith, RJ. Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet 1997;60:758–64Google ScholarPubMed
3Kenneson, A, Van, Naarden, Braun, K, Boyle, C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HUGE review. Genet Med 2002;4:258–74CrossRefGoogle ScholarPubMed
4Gasparini, P, Rabionet, R, Barbujani, G, Melçhionda, S, Petersen, M, Brøndum-Nielsen, K et al. High carrier frequency of the 35delG deafness mutation in European populations. Genetic analysis consortium of GJB2 35delG. Eur J Hum Genet 2000;8:19–23CrossRefGoogle ScholarPubMed
5Zelante, L, Gasparini, P, Estivill, X, Melchionda, S, D'Agruma, L, Govea, N et al. Connexin 26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997;6:1605–9CrossRefGoogle ScholarPubMed
6Santos, RL, Wajid, M, Pham, TL, Hussan, J, Ali, G, Ahmad, W et al. Low prevalence of connexin 26 (GJB2) variants in Pakistani families with autosomal recessive nonsyndromic hearing impairment. Clin Genet 2005;67:61–8CrossRefGoogle Scholar
7Hashemzadeh, M, Farhud, DD, Taylor, R, Hadavi, V, Patton, MA, Afzal, AR. Deafness-associated connexin 26 gene (GJB2) mutations in Iranian population. Iranian Journal of Public Health 2002;31:75–9Google Scholar
8Hashemzadeh, M, Hoghooghi, L, Dolati, M, Sasanfar, R, Hoseinipour, A, Montazer-Zohour, M et al. Frequencies of mutations in the connexin 26 gene (GJB2) in two populations of Iran (Tehran and Tabriz). Iranian Journal of Public Health 2005;34:1–7Google Scholar
9Hosseinipour, A, Hashemzadeh, M, Sasanfar, R, Farhud, DD, Tolooi, A, Doulati, M et al. Report of a new mutation and frequency of connexin 26 gene (GJB2) Mutations in patients from three provinces of Iran. Iranian Journal of Public Health 2005;34:47–50Google Scholar
10Najmabadi, H, Nishimura, C, Kahrizi, K, Riazalhosseini, Y, Malekpour, M, Daneshi, A et al. GJB2 mutations: passage through Iran. Am J Med Genet 2005;133A:132–7CrossRefGoogle ScholarPubMed
11Forge, A, Becker, D, Casalotti, S, Edwards, J, Evans, WH, Lench, N et al. Gap junctions and connexin expression in the inner ear. Novartis Found Symp 1999;219:134–50, 151–63Google ScholarPubMed
12Green, GE, Scott, DA, McDonald, JM, Teagle, HF, Tomblin, BJ, Spencer, LJ et al. Performance of cochlear implant recipients with GJB2-related deafness. Am J Med Genet 2002;109:167–70CrossRefGoogle ScholarPubMed
13Fukushima, K. Better speech performance in cochlear implant patients with GJB2-related deafness. Int J Pediatr Otorhinolaryngol 2002;62:151–7CrossRefGoogle ScholarPubMed
14Lustig, LR, Lin, D, Venick, H, Larky, J, Yeagle, J, Chinnici, J et al. GJB2 gene mutations in cochlear implant recipients, prevalence and impact on outcome. Arch Otolaryngol Head Neck Surg 2004;130:541–6CrossRefGoogle ScholarPubMed
15Wiley, 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;70:493–500CrossRefGoogle Scholar
16Scott, DA, Kraft, ML, Carmi, R, Ramesh, A, Elbedour, K, Yairi, Y et al. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum Mutat 1988;11:387–943.0.CO;2-8>CrossRefGoogle Scholar
17Del Castillo, I, Villamar, M, Moreno-Pelayo, MA, Del Castillo, FJ, Alvarez, A, Telleria, D et al. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med 2002;346:243–9CrossRefGoogle ScholarPubMed
18Del 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: multicenter study. Am J Hum Genet 2003;73:1452–8CrossRefGoogle ScholarPubMed
19Archbold, S, Lutman, ME, Nikolopoulos, T. Categories of auditory performance: inter-user reliability. Br J Audiol 1998;32:7–12CrossRefGoogle ScholarPubMed
20Allen, MC, Nikolopoulos, TP, O'Donoghue, GM. Speech intelligibility in children after cochlear implantation. Am J Otol 1998;19:742–5Google ScholarPubMed
21Mustapha, M, Salem, N, Delague, V, Chouery, E, Ghassibeh, M, Rai, M et al. Autosomal recessive nonsyndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene. J Med Genet 2001;38:e36CrossRefGoogle Scholar
22Propst, EJ, Papsin, BC, Stockley, TL, Harrison, RV, Gordon, KA. Auditory responses in cochlear implant users with and without GJB2 deafness. Laryngoscope 2006;116:317–27CrossRefGoogle ScholarPubMed