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Volumn 66, Issue 2, 2004, Pages 152-157

Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness

Author keywords

Congenital deafness; Connexin 26; Czech population; Gypsies

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN;

EID: 4344627625     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2004.00283.x     Document Type: Article
Times cited : (55)

References (23)
  • 1
    • 0001639812 scopus 로고
    • Epidemiology, etiology and genetic patterns
    • (Gorlin R, Toriello H, Cohen M, eds). Oxford: Oxford University Press
    • Cohen M, Gorlin R. Epidemiology, etiology and genetic patterns. In: Hereditary hearing loss and its syndromes (Gorlin R, Toriello H, Cohen M, eds). Oxford: Oxford University Press, 1995: 9-21.
    • (1995) Hereditary Hearing Loss and Its Syndromes , pp. 9-21
    • Cohen, M.1    Gorlin, R.2
  • 2
    • 0034531832 scopus 로고    scopus 로고
    • Statement of the American College of Medical Genetics on universal newborn hearing screening
    • and The Newborn Hearing Subcommittee of the Public Health Genetics Committee
    • Nance WE, and The Newborn Hearing Subcommittee of the Public Health Genetics Committee. Statement of the American College of Medical Genetics on universal newborn hearing screening. Genet Med 2000: 2 (2): 149-150.
    • (2000) Genet. Med. , vol.2 , Issue.2 , pp. 149-150
    • Nance, W.E.1
  • 3
    • 0026410464 scopus 로고
    • Genetic epidemiology of hearing impairment
    • Morton NE. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 1991: 630: 16-31.
    • (1991) Ann. N. Y. Acad. Sci. , vol.630 , pp. 16-31
    • Morton, N.E.1
  • 5
    • 0033850250 scopus 로고    scopus 로고
    • Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins
    • Rabionet R, Gasparini P, Estivill X. Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Hum Mutat 2000: 16: 190-202.
    • (2000) Hum. Mutat. , vol.16 , pp. 190-202
    • Rabionet, R.1    Gasparini, P.2    Estivill, X.3
  • 6
    • 4243238202 scopus 로고    scopus 로고
    • Exploring the clinical and epidemiological complexity of GJB2-linked deafness
    • Gualandi F, Ravani A, Berto A et al. Exploring the clinical and epidemiological complexity of GJB2-linked deafness. Am J Med Genet 2002: 112 (1): 38-45.
    • (2002) Am. J. Med. Genet. , vol.112 , Issue.1 , pp. 38-45
    • Gualandi, F.1    Ravani, A.2    Berto, A.3
  • 7
    • 17544402026 scopus 로고    scopus 로고
    • High carrier frequency of the 35delG deafness mutation in European populations
    • Gasparini P, Rabionet G, Barbujani G et al. High carrier frequency of the 35delG deafness mutation in European populations. Eur J Hum Genet 2000: 8: 19-23.
    • (2000) Eur. J. Hum. Genet. , vol.8 , pp. 19-23
    • Gasparini, P.1    Rabionet, G.2    Barbujani, G.3
  • 8
    • 0036634619 scopus 로고    scopus 로고
    • Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment
    • Kupka S, Braun Aberle S, Haak B, et al. Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment. Hum Mutat 2002: 20 (1): 77-78.
    • (2002) Hum. Mutat. , vol.20 , Issue.1 , pp. 77-78
    • Kupka, S.1    Braun Aberle, S.2    Haak, B.3
  • 9
    • 0034019466 scopus 로고    scopus 로고
    • The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population
    • Sobe T, Vreugde S, Shahin H et al. The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population. Hum Genet 2000: 106: 50-57.
    • (2000) Hum. Genet. , vol.106 , pp. 50-57
    • Sobe, T.1    Vreugde, S.2    Shahin, H.3
  • 10
    • 0036821083 scopus 로고    scopus 로고
    • The prevalence of connexin 26 (GJB2) mutations in the Chinese population
    • Liu XZ, Xia XJ, Ke XM et al. The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Hum Genet 2002: 111 (4-5): 394-397.
    • (2002) Hum. Genet. , vol.111 , Issue.4-5 , pp. 394-397
    • Liu, X.Z.1    Xia, X.J.2    Ke, X.M.3
  • 11
    • 0041321501 scopus 로고    scopus 로고
    • Screening of families with autosomal recessive non-syndromic hearing impairment (ASNSHI) for mutations in GJB2 gene: Indian scenario
    • Maheshwari M, Vijaya R, Ghosh M, Shastri A, Kabra M, Menon PSN. Screening of families with autosomal recessive non-syndromic hearing impairment (ASNSHI) for mutations in GJB2 gene: Indian scenario. Am J Med Genet 2003: 120: 180-184.
    • (2003) Am. J. Med. Genet. , vol.120 , pp. 180-184
    • Maheshwari, M.1    Vijaya, R.2    Ghosh, M.3    Shastri, A.4    Kabra, M.5    Menon, P.S.N.6
  • 12
    • 0035375301 scopus 로고    scopus 로고
    • Mutations in the connexin 26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population
    • Heinz G, Kupsch P, Sudeney J, Winterhager E, Jahnke K, Lautermann J. Mutations in the connexin 26/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
    • Heinz, G.1    Kupsch, P.2    Sudeney, J.3    Winterhager, E.4    Jahnke, K.5    Lautermann, J.6
  • 13
    • 85047699401 scopus 로고    scopus 로고
    • A large deletion including most of the GJB6 in recessive non syndromic deafness: A digenic effect ?
    • Pallares-Ruis N, Blanchet P, Mondain M, Claustres M, Roux AF. A large deletion including most of the GJB6 in recessive non syndromic deafness: a digenic effect ? Eur J Hum Genet 2002: 10: 72-76.
    • (2002) Eur. J. Hum. Genet. , vol.10 , pp. 72-76
    • Pallares-Ruis, N.1    Blanchet, P.2    Mondain, M.3    Claustres, M.4    Roux, A.F.5
  • 14
    • 7144228618 scopus 로고    scopus 로고
    • Identification of mutations in the connexin 26 gene that causes autosomal recessive nonsyndromic hearing loss
    • Scott DA, Kraft ML, Carmi R et al. Identification of mutations in the connexin 26 gene that causes autosomal recessive nonsyndromic hearing loss. Hum Mutat 1998: 11: 387-394.
    • (1998) Hum. Mutat. , vol.11 , pp. 387-394
    • Scott, D.A.1    Kraft, M.L.2    Carmi, R.3
  • 15
    • 0036705666 scopus 로고    scopus 로고
    • Human connexin 26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression
    • Thoennissen E, Rabionet R, Lourdes Arbones M, Estivill X, Willecke K, Ott T. Human connexin 26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression. Hum Genet 2002: 111: 190-197.
    • (2002) Hum. Genet. , vol.111 , pp. 190-197
    • Thoennissen, E.1    Rabionet, R.2    Lourdes Arbones, M.3    Estivill, X.4    Willecke, K.5    Ott, T.6
  • 16
    • 4344680635 scopus 로고    scopus 로고
    • Connexin 26 M34T variant is a frequent polymorphism
    • in France
    • Feldmann D, Denoyelle F, London N et al. Connexin 26 M34T variant is a frequent polymorphism, in France. Eur J Hum Genet 2003: 11 (1): 210.
    • (2003) Eur. J. Hum. Genet. , vol.11 , Issue.1 , pp. 210
    • Feldmann, D.1    Denoyelle, F.2    London, N.3
  • 17
    • 0031007349 scopus 로고    scopus 로고
    • Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
    • Kelsell DP, Dunlop J, Stevens HP et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997: 387: 80-83.
    • (1997) Nature , vol.387 , pp. 80-83
    • Kelsell, D.P.1    Dunlop, J.2    Stevens, H.P.3
  • 18
    • 1542286154 scopus 로고    scopus 로고
    • High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL)
    • Minarik G, Ferak V, Ferakova E, Ficek A, Polakova H, Kadasi L. High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL). Gen Physiol Biophys 2003: 22: 549-556.
    • (2003) Gen. Physiol. Biophys. , vol.22 , pp. 549-556
    • Minarik, G.1    Ferak, V.2    Ferakova, E.3    Ficek, A.4    Polakova, H.5    Kadasi, L.6
  • 19
    • 0141640888 scopus 로고    scopus 로고
    • Connexin 26 mutations and nonsyndromic hearing impairment in northern Finland
    • Lopponen T, Vaisanen ML, Luotonen M et al. Connexin 26 mutations and nonsyndromic hearing impairment in northern Finland. Laryngoscope 2003: 113 (10): 1758-1763.
    • (2003) Laryngoscope , vol.113 , Issue.10 , pp. 1758-1763
    • Lopponen, T.1    Vaisanen, M.L.2    Luotonen, M.3
  • 20
    • 0033838433 scopus 로고    scopus 로고
    • Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (Connexin 26) genotype M34T/167delT
    • Griffith JA, Chowdhry AA, Kurima K et al. Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (Connexin 26) genotype M34T/167delT. Am J Hum Genet 2000: 67: 745-749.
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 745-749
    • Griffith, J.A.1    Chowdhry, A.A.2    Kurima, K.3
  • 21
    • 11144357197 scopus 로고    scopus 로고
    • Clinical evidence of the non-pathogenic nature of the M34T variant in the connexin 26 gene
    • Feldmann D, Denoyelle F, London N et al. Clinical evidence of the non-pathogenic nature of the M34T variant in the connexin 26 gene. Eur J Hum Genet 2004: 12: 279-284.
    • (2004) Eur. J. Hum. Genet. , vol.12 , pp. 279-284
    • Feldmann, D.1    Denoyelle, F.2    London, N.3
  • 22
    • 0037209154 scopus 로고    scopus 로고
    • Evaluation of Cx26/GJB2 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/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10. Hum Mutat 2003: 21 (1): 98.
    • (2003) Hum. Mutat. , vol.21 , Issue.1 , pp. 98
    • Zoll, B.1    Petersen, L.2    Lange, K.3
  • 23
    • 0347951342 scopus 로고    scopus 로고
    • The effect of GJB2 allele variants on performance after cochlear implantation
    • Bauer PW, Geers AE, Brenner C, Moog JS, Smith RJ. The effect of GJB2 allele variants on performance after cochlear implantation. Laryngoscope 2003: 113 (12): 2135-2340.
    • (2003) Laryngoscope , vol.113 , Issue.12 , pp. 2135-2340
    • Bauer, P.W.1    Geers, A.E.2    Brenner, C.3    Moog, J.S.4    Smith, R.J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.