메뉴 건너뛰기




Volumn 52, Issue 4, 2009, Pages 174-179

Molecular screening of deafness in Algeria: High genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F

Author keywords

[No Author keywords available]

Indexed keywords

MYOSIN VIIA;

EID: 67650744824     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.03.018     Document Type: Article
Times cited : (30)

References (31)
  • 1
    • 0026410464 scopus 로고
    • Genetic epidemiology of hearing impairment
    • Morton N.E. Genetic epidemiology of hearing impairment. Ann. N. Y. Acad. Sci. 630 (1991) 16-31
    • (1991) Ann. N. Y. Acad. Sci. , vol.630 , pp. 16-31
    • Morton, N.E.1
  • 2
    • 0034469456 scopus 로고    scopus 로고
    • Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness
    • Kikuchi T., Adams J.C., Miyabe Y., So E., and Kobayashi T. Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness. Med. Electron Microsc. 33 (2000) 51-56
    • (2000) Med. Electron Microsc. , vol.33 , pp. 51-56
    • Kikuchi, T.1    Adams, J.C.2    Miyabe, Y.3    So, E.4    Kobayashi, T.5
  • 3
    • 9844245885 scopus 로고    scopus 로고
    • Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
    • Zelante L., Gasparini P., Estivill X., Melchionda S., D'Agruma L., Govea N., et al. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum. Mol. Genet. 6 (1997) 1605-1609
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1605-1609
    • Zelante, L.1    Gasparini, P.2    Estivill, X.3    Melchionda, S.4    D'Agruma, L.5    Govea, N.6
  • 6
    • 3643059295 scopus 로고    scopus 로고
    • Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness
    • Morell R.J., Kim H.J., Hood L.J., 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. 339 (1998) 1500-1505
    • (1998) N. Engl. J. Med. , vol.339 , pp. 1500-1505
    • Morell, R.J.1    Kim, H.J.2    Hood, L.J.3    Goforth, L.4    Friderici, K.5    Fisher, R.6
  • 7
    • 0034614011 scopus 로고    scopus 로고
    • Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT
    • Lerer I., Sagi M., Malamud E., Levi H., Raas-Rothschild A., and Abeliovich D. Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT. Am. J. Med. Genet. 95 (2000) 53-56
    • (2000) Am. J. Med. Genet. , vol.95 , pp. 53-56
    • Lerer, I.1    Sagi, M.2    Malamud, E.3    Levi, H.4    Raas-Rothschild, A.5    Abeliovich, D.6
  • 8
    • 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., Berlin M., Davis N., Kanaan M., et al. The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population. Hum. Genet. 106 (2000) 50-57
    • (2000) Hum. Genet. , vol.106 , pp. 50-57
    • Sobe, T.1    Vreugde, S.2    Shahin, H.3    Berlin, M.4    Davis, N.5    Kanaan, M.6
  • 10
    • 0034677194 scopus 로고    scopus 로고
    • Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population
    • Kudo T., Ikeda K., Kure S., Matsubara Y., Oshima T., Watanabe K., et al. Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. Am. J. Med. Genet. 90 (2000) 141-145
    • (2000) Am. J. Med. Genet. , vol.90 , pp. 141-145
    • Kudo, T.1    Ikeda, K.2    Kure, S.3    Matsubara, Y.4    Oshima, T.5    Watanabe, K.6
  • 11
    • 34249052925 scopus 로고    scopus 로고
    • The prevalence of the 235delC GJB2 mutation in a Chinese deaf population
    • Dai P., Yu F., Han B., Yuan Y., Li Q., Wang G., et al. The prevalence of the 235delC GJB2 mutation in a Chinese deaf population. Genet. Med. 9 (2007) 283-289
    • (2007) Genet. Med. , vol.9 , pp. 283-289
    • Dai, P.1    Yu, F.2    Han, B.3    Yuan, Y.4    Li, Q.5    Wang, G.6
  • 12
    • 0035513485 scopus 로고    scopus 로고
    • A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: a novel founder mutation in Ashkenazi Jews
    • Lerer I., Sagi M., Ben-Neriah Z., Wang T., Levi H., and Abeliovich D. A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: a novel founder mutation in Ashkenazi Jews. Hum. Mutat. 18 (2001) 460
    • (2001) Hum. Mutat. , vol.18 , pp. 460
    • Lerer, I.1    Sagi, M.2    Ben-Neriah, Z.3    Wang, T.4    Levi, H.5    Abeliovich, D.6
  • 14
    • 85047699401 scopus 로고    scopus 로고
    • A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?
    • Pallares-Ruiz N., Blanchet P., Mondain M., Claustres M., and Roux A.F. A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?. Eur. J. Hum. Genet. 10 (2002) 72-76
    • (2002) Eur. J. Hum. Genet. , vol.10 , pp. 72-76
    • Pallares-Ruiz, N.1    Blanchet, P.2    Mondain, M.3    Claustres, M.4    Roux, A.F.5
  • 15
    • 22244489070 scopus 로고    scopus 로고
    • A novel deletion involving the connexin-30 gene, del(GJB6-D13S1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment
    • del Castillo F.J., Rodriguez-Ballesteros M., Alvarez A., Hutchin T., Leonardi E., de Oliveira C.A., et al. A novel deletion involving the connexin-30 gene, del(GJB6-D13S1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J. Med. Genet. 42 (2005) 588-594
    • (2005) J. Med. Genet. , vol.42 , pp. 588-594
    • del Castillo, F.J.1    Rodriguez-Ballesteros, M.2    Alvarez, A.3    Hutchin, T.4    Leonardi, E.5    de Oliveira, C.A.6
  • 16
    • 0035775666 scopus 로고    scopus 로고
    • Usher syndrome: from genetics to pathogenesis
    • Petit C. Usher syndrome: from genetics to pathogenesis. Annu. Rev. Genomics Hum. Genet. 2 (2001) 271-297
    • (2001) Annu. Rev. Genomics Hum. Genet. , vol.2 , pp. 271-297
    • Petit, C.1
  • 18
    • 18444366182 scopus 로고    scopus 로고
    • CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness
    • Astuto L.M., Bork J.M., Weston M.D., Askew J.W., Fields R.R., Orten D.J., et al. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am. J. Hum. Genet. 71 (2002) 262-275
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 262-275
    • Astuto, L.M.1    Bork, J.M.2    Weston, M.D.3    Askew, J.W.4    Fields, R.R.5    Orten, D.J.6
  • 19
    • 53749084609 scopus 로고    scopus 로고
    • Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome
    • Ahmed Z.M., Riazuddin S., Aye S., Ali R.A., Venselaar H., Anwar S., et al. Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. Hum. Genet. 124 (2008) 215-223
    • (2008) Hum. Genet. , vol.124 , pp. 215-223
    • Ahmed, Z.M.1    Riazuddin, S.2    Aye, S.3    Ali, R.A.4    Venselaar, H.5    Anwar, S.6
  • 20
    • 0032840844 scopus 로고    scopus 로고
    • Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method
    • Storm K., Willocx S., Flothmann K., and 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. 14 (1999) 263-266
    • (1999) Hum. Mutat. , vol.14 , pp. 263-266
    • Storm, K.1    Willocx, S.2    Flothmann, K.3    Van Camp, G.4
  • 21
    • 0035727737 scopus 로고    scopus 로고
    • Evaluation of dHPLC for CX26 mutation screening in patients from southern France with sensorineural deafness
    • Pallares-Ruiz N., Blanchet P., Mondain M., Low-Hong S., Demaille J., Claustres M., et al. Evaluation of dHPLC for CX26 mutation screening in patients from southern France with sensorineural deafness. Genet. Test. 5 (2001) 339-343
    • (2001) Genet. Test. , vol.5 , pp. 339-343
    • Pallares-Ruiz, N.1    Blanchet, P.2    Mondain, M.3    Low-Hong, S.4    Demaille, J.5    Claustres, M.6
  • 22
    • 33749346050 scopus 로고    scopus 로고
    • Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%
    • Roux A.F., Faugere V., Le Guedard S., Pallares-Ruiz N., Vielle A., Chambert S., et al. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. J. Med. Genet. 43 (2006) 763-768
    • (2006) J. Med. Genet. , vol.43 , pp. 763-768
    • Roux, A.F.1    Faugere, V.2    Le Guedard, S.3    Pallares-Ruiz, N.4    Vielle, A.5    Chambert, S.6
  • 23
    • 34548014988 scopus 로고    scopus 로고
    • Molecular and in silico analyses of the full-length isoform of Usher in identify new pathogenic alleles in Usher type II patients
    • Baux D., Larrieu L., Blanchet C., Hamel C., Ben Salah S., Vielle A., et al. Molecular and in silico analyses of the full-length isoform of Usher in identify new pathogenic alleles in Usher type II patients. Hum. Mutat. 28 (2007) 781-789
    • (2007) Hum. Mutat. , vol.28 , pp. 781-789
    • Baux, D.1    Larrieu, L.2    Blanchet, C.3    Hamel, C.4    Ben Salah, S.5    Vielle, A.6
  • 24
    • 0033577528 scopus 로고    scopus 로고
    • Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling
    • Denoyelle F., Marlin S., Weil D., Moatti L., Chauvin P., Garabedian E.N., et al. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 353 (1999) 1298-1303
    • (1999) Lancet , vol.353 , pp. 1298-1303
    • Denoyelle, F.1    Marlin, S.2    Weil, D.3    Moatti, L.4    Chauvin, P.5    Garabedian, E.N.6
  • 25
    • 0033850250 scopus 로고    scopus 로고
    • Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins
    • Rabionet R., Gasparini P., and Estivill X. Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Hum. Mutat. 16 (2000) 190-202
    • (2000) Hum. Mutat. , vol.16 , pp. 190-202
    • Rabionet, R.1    Gasparini, P.2    Estivill, X.3
  • 26
    • 0035489776 scopus 로고    scopus 로고
    • Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene
    • Mustapha M., Salem N., Delague V., Chouery E., Ghassibeh M., Rai M., et al. Autosomal recessive non-syndromic 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. 38 (2001) E36
    • (2001) J. Med. Genet. , vol.38
    • Mustapha, M.1    Salem, N.2    Delague, V.3    Chouery, E.4    Ghassibeh, M.5    Rai, M.6
  • 27
    • 27744466817 scopus 로고    scopus 로고
    • Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant
    • Gazzaz B., Weil D., Rais L., Akhyat O., Azeddoug H., and 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. 210 (2005) 80-84
    • (2005) Hear. Res. , vol.210 , pp. 80-84
    • Gazzaz, B.1    Weil, D.2    Rais, L.3    Akhyat, O.4    Azeddoug, H.5    Nadifi, S.6
  • 28
    • 0034324676 scopus 로고    scopus 로고
    • Determination of the frequency of connexin26 mutations in inherited sensorineural deafness and carrier rates in the Tunisian population using DGGE
    • Masmoudi S., Elgaied-Boulila A., Kassab I., Ben Arab S., Blanchard S., Bouzouita J.E., et al. Determination of the frequency of connexin26 mutations in inherited sensorineural deafness and carrier rates in the Tunisian population using DGGE. J. Med. Genet. 37 (2000) E39
    • (2000) J. Med. Genet. , vol.37
    • Masmoudi, S.1    Elgaied-Boulila, A.2    Kassab, I.3    Ben Arab, S.4    Blanchard, S.5    Bouzouita, J.E.6
  • 30
    • 0032912744 scopus 로고    scopus 로고
    • Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity
    • Janecke A.R., Meins M., Sadeghi M., Grundmann K., Apfelstedt-Sylla E., Zrenner E., et al. Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. Hum. Mutat. 13 (1999) 133-140
    • (1999) Hum. Mutat. , vol.13 , pp. 133-140
    • Janecke, A.R.1    Meins, M.2    Sadeghi, M.3    Grundmann, K.4    Apfelstedt-Sylla, E.5    Zrenner, E.6
  • 31
    • 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., and Van Camp G. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?. Mutat. Res. 681 (2009) 189-196
    • (2009) Mutat. Res. , vol.681 , pp. 189-196
    • Hilgert, N.1    Smith, R.J.2    Van Camp, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.