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Volumn 96, Issue 9, 2011, Pages 798-803

Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26;

EID: 80051823598     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.2010.209262     Document Type: Article
Times cited : (8)

References (40)
  • 2
    • 0036654536 scopus 로고    scopus 로고
    • GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review
    • DOI 10.1097/00125817-200207000-00004
    • Kenneson A., Van Naarden Braun K., Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med 2002;4:258-274 (Pubitemid 44698560)
    • (2002) Genetics in Medicine , vol.4 , Issue.4 , pp. 258-274
    • Kenneson, A.1    Van Naarden, B.K.2    Boyle, C.3
  • 3
    • 33646150467 scopus 로고    scopus 로고
    • Non-syndromic, autosomal-recessive deafness
    • Petersen M B, Willems P.J. Non-syndromic, autosomal-recessive deafness. Clin Genet 2006;69:371-392
    • (2006) Clin Genet , vol.69 , pp. 371-392
    • Petersen, M.B.1    Willems, P.J.2
  • 4
    • 70849086570 scopus 로고    scopus 로고
    • Writing a Brasian city:'race,' culture and religion in accounts of postcolonial Bradford
    • Ali N, Kalra VS, Sayyid S, eds. New York: Columbia University Press
    • McLoughlin S. Writing a Brasian city:'race,' culture and religion in accounts of postcolonial Bradford. In: Ali N, Kalra VS, Sayyid S, eds. A Postcolonial People: South Asians in Britain. New York: Columbia University Press 2008:110-142
    • (2008) A Postcolonial People: South Asians in Britain , pp. 110-142
    • McLoughlin, S.1
  • 5
    • 0041321501 scopus 로고    scopus 로고
    • Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario
    • Maheshwari M., Vijaya R., Ghosh M., et al. 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:180-184 (Pubitemid 37063794)
    • (2003) American Journal of Medical Genetics , vol.120 A , Issue.2 , pp. 180-184
    • Maheshwari, M.1    Vijaya, R.2    Ghosh, M.3    Shastri, S.4    Kabra, M.5    Menon, P.S.N.6
  • 6
    • 0043280848 scopus 로고    scopus 로고
    • Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India
    • RamShankar M, Girirajan S, Dagan O, et al. Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India. J Med Genet 2003;40:e68.
    • (2003) J Med Genet , vol.40
    • RamShankar, M.1    Girirajan, S.2    Dagan, O.3
  • 8
    • 12744269573 scopus 로고    scopus 로고
    • Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment
    • Santos R L, Wajid M., Pham T.L., et al. Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. Clin Genet 2005;67:61-68
    • (2005) Clin Genet , vol.67 , pp. 61-68
    • Santos, R.L.1    Wajid, M.2    Pham, T.L.3
  • 9
    • 73949157193 scopus 로고    scopus 로고
    • GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment
    • Padma G., Ramchander P.V., Nandur U.V., et al. GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment. J Genet 2009;88:267-272
    • (2009) J Genet , vol.88 , pp. 267-272
    • Padma, G.1    Ramchander, P.V.2    Nandur, U.V.3
  • 10
    • 58649105094 scopus 로고    scopus 로고
    • High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India
    • Joseph A.Y., Rasool T.J. High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India. Int J Pediatr Otorhinolaryngol 2009;73:437-443
    • (2009) Int J Pediatr Otorhinolaryngol , vol.73 , pp. 437-443
    • Joseph, A.Y.1    Rasool, T.J.2
  • 11
    • 67349178107 scopus 로고    scopus 로고
    • Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairment
    • Bhalla S., Sharma R., Khandelwal G., et al. Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairment. Biochem Biophys Res Commun 2009;385:445-448
    • (2009) Biochem Biophys Res Commun , vol.385 , pp. 445-448
    • Bhalla, S.1    Sharma, R.2    Khandelwal, G.3
  • 13
    • 0036396927 scopus 로고    scopus 로고
    • Hereditary deafness and phenotyping in humans
    • DOI 10.1093/bmb/63.1.73
    • Bitner-Glindzicz M. Hereditary deafness and phenotyping in humans. Br Med Bull 2002;63:73-94. (Pubitemid 35175752)
    • (2002) British Medical Bulletin , vol.63 , pp. 73-94
    • Bitner-Glindzicz, M.1
  • 14
    • 49749087912 scopus 로고    scopus 로고
    • Spectrum of G JB2 mutations causing deafness in the British Bangladeshi population
    • Bajaj Y., Sirimanna T., Albert D.M., et al. Spectrum of G JB2 mutations causing deafness in the British Bangladeshi population. Clin Otolaryngol 2008;33:313-318
    • (2008) Clin Otolaryngol , vol.33 , pp. 313-318
    • Bajaj, Y.1    Sirimanna, T.2    Albert, D.M.3
  • 15
    • 0023850586 scopus 로고
    • The frequency of consanguineous marriage among British Pakistanis
    • Darr A., Modell B. The frequency of consanguineous marriage among British Pakistanis. J Med Genet 1988;25:186-190 (Pubitemid 18082766)
    • (1988) Journal of Medical Genetics , vol.25 , Issue.3 , pp. 186-190
    • Darr, A.1    Modell, B.2
  • 16
    • 84961433493 scopus 로고
    • Recommendation. Descriptors for pure-tone audiograms
    • British Society of Audiology
    • British Society of Audiology. Recommendation. Descriptors for pure-tone audiograms. Br J Audiol 1988;22:123.
    • (1988) Br J Audiol , vol.22 , pp. 123
  • 17
    • 0029187897 scopus 로고
    • Joint Committee on Infant Hearing 1994 Position Statement. American Academy of Pediatrics Joint committee on Infant Hearing
    • Joint Committee on Infant Hearing 1994 Position Statement. American Academy of Pediatrics Joint committee on Infant Hearing. Pediatrics 1995;95:152-156
    • (1995) Pediatrics , vol.95 , pp. 152-156
  • 18
    • 0029418161 scopus 로고
    • Lay understanding of genetic disease: A British study of families attending a genetic counseling service
    • Chapple A., May C., Campion P. Lay understanding of genetic disease: a British study of families attending a genetic counseling service. J Genet Couns 1995;4:281-300.
    • (1995) J Genet Couns , vol.4 , pp. 281-300
    • Chapple, A.1    May, C.2    Campion, P.3
  • 19
    • 0036435636 scopus 로고    scopus 로고
    • Intellectual disability and cerebral palsy in a UK community
    • DOI 10.1159/000066337
    • Corry P.C. Intellectual disability and cerebral palsy in a UK community. Community Genet 2002;5:201-204 (Pubitemid 35356684)
    • (2002) Community Genetics , vol.5 , Issue.3 , pp. 201-204
    • Corry, P.C.1
  • 21
    • 0033839722 scopus 로고    scopus 로고
    • Population-based genetic study of childhood hearing impairment in the Trent Region of the United Kingdom
    • Parker M J, Fortnum H.M., Young I.D., et al. Population-based genetic study of childhood hearing impairment in the Trent Region of the United Kingdom. Audiology 2000;39:226-231 (Pubitemid 30670226)
    • (2000) Audiology , vol.39 , Issue.4 , pp. 226-231
    • Parker, M.J.1    Fortnum, H.M.2    Young, I.D.3    Davis, A.C.4    Mueller, R.F.5
  • 22
    • 0034536288 scopus 로고    scopus 로고
    • Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)
    • DOI 10.1002/1098-1004(200012)16:6<502::AID-HUMU7>3.0.CO;2-4
    • Prasad S., Cucci R.A., Green G.E., et al. G enetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA). Hum Mutat 2000;16:502-508 (Pubitemid 32001299)
    • (2000) Human Mutation , vol.16 , Issue.6 , pp. 502-508
    • Prasad, S.1    Cucci, R.A.2    Green, G.E.3    Smith, R.J.H.4
  • 23
    • 0035375301 scopus 로고    scopus 로고
    • Mutations in the connexin26/ GJB2 gene are the most common event in non-syndromic hearing loss among the German population
    • Gabriel H., Kupsch P., Sudendey J., et al. Mutations in the connexin26/ GJB2 gene are the most common event in non-syndromic hearing loss among the German population. Hum Mutat 2001;17:521-522
    • (2001) Hum Mutat , vol.17 , pp. 521-522
    • Gabriel, H.1    Kupsch, P.2    Sudendey, J.3
  • 25
    • 0037209154 scopus 로고    scopus 로고
    • Evaluation of Cx26 /G JB2 in German hearing impaired persons: Mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and-493del10
    • Zoll B., Petersen L., Lange K., et al. Evaluation of Cx26 /G JB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and-493del10. Hum Mutat 2003;21:98.
    • (2003) Hum Mutat , vol.21 , pp. 98
    • Zoll, B.1    Petersen, L.2    Lange, K.3
  • 28
    • 2542482799 scopus 로고    scopus 로고
    • Molecular epidemiology of DFNB1 deafness in France
    • Roux A F, Pallares-Ruiz N., Vielle A., et al. Molecular epidemiology of DFNB1 deafness in France. BMC Med Genet 2004;5:5.
    • (2004) BMC Med Genet , vol.5 , pp. 5
    • Roux, A.F.1    Pallares-Ruiz, N.2    Vielle, A.3
  • 29
    • 33750603199 scopus 로고    scopus 로고
    • DNA sequence analysis of GJB2, encoding connexin 26: Observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls
    • DOI 10.1002/ajmg.a.31525
    • Tang H.Y., Fang P., Ward P.A., et al. DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. Am J Med Genet A 2006;140:2401-2415 (Pubitemid 44684935)
    • (2006) American Journal of Medical Genetics, Part A , vol.140 , Issue.22 , pp. 2401-2415
    • Tang, H.-Y.1    Fang, P.2    Ward, P.A.3    Schmitt, E.4    Darilek, S.5    Manolidis, S.6    Oghalai, J.S.7    Roa, B.B.8    Alford, R.L.9
  • 31
    • 60749110729 scopus 로고    scopus 로고
    • Hearing loss features in GJB2 biallelic mutations and GJB2 / GJB6 digenic inheritance in a large Italian cohort
    • Cama E., Melchionda S., Palladino T., et al. Hearing loss features in GJB2 biallelic mutations and GJB2 / GJB6 digenic inheritance in a large Italian cohort. Int J Audiol 2009;48:12-17.
    • (2009) Int J Audiol , vol.48 , pp. 12-17
    • Cama, E.1    Melchionda, S.2    Palladino, T.3
  • 34
    • 0029911136 scopus 로고    scopus 로고
    • Prevalence of sensorineural hearing loss in Asian children
    • Naeem Z., Newton V. Prevalence of sensorineural hearing loss in Asian children. Br J Audiol 1996;30:332-339 (Pubitemid 26379005)
    • (1996) British Journal of Audiology , vol.30 , Issue.5 , pp. 332-339
    • Naeem, Z.1    Newton, V.2
  • 35
    • 64549119612 scopus 로고    scopus 로고
    • CaUses of deafness in British Bangladeshi children: A prevalence twice that of the UK population cannot be accounted for by consanguinity alone
    • Bajaj Y., Sirimanna T., Albert D.M., et al. CaUses of deafness in British Bangladeshi children: a prevalence twice that of the UK population cannot be accounted for by consanguinity alone. Clin Otolaryngol 2009;34:113-119
    • (2009) Clin Otolaryngol , vol.34 , pp. 113-119
    • Bajaj, Y.1    Sirimanna, T.2    Albert, D.M.3
  • 36
    • 18244379313 scopus 로고    scopus 로고
    • Families affected by deafness: Hospital services uptake in a multiethnic population
    • DOI 10.1136/adc.2003.046631
    • Yoong S.Y., Feltbower R., Spencer N., et al. Families affected by deafness: hospital services uptake in a multiethnic population. Arch Dis Child 2005;90:454-459 (Pubitemid 40627438)
    • (2005) Archives of Disease in Childhood , vol.90 , Issue.5 , pp. 454-459
    • Yoong, S.Y.1    Feltbower, R.2    Spencer, N.3    McKinney, P.A.4
  • 38
    • 80051804732 scopus 로고    scopus 로고
    • accessed 20 November 2010
    • UK Genetic Testing Network. Welcome to the UKGTN. http://www.ukgtn.nhs.uk (accessed 20 November 2010).
    • Welcome to the UKGTN
  • 39
    • 59349118706 scopus 로고    scopus 로고
    • Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analyzed in DNA diagnostics?
    • Hilgert N., Smith R.J., Van Camp G. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res 2009;681:189-196
    • (2009) Mutat Res , vol.681 , pp. 189-196
    • Hilgert, N.1    Smith, R.J.2    Van Camp, G.3
  • 40
    • 77952928392 scopus 로고    scopus 로고
    • Genetic deafness in Pakistani population
    • Ali G. Genetic deafness in Pakistani population. J Pak Med Assoc 2010;60:418-419
    • (2010) J Pak Med Assoc , vol.60 , pp. 418-419
    • Ali, G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.