메뉴 건너뛰기




Volumn 77, Issue 5, 2013, Pages 714-716

GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness

Author keywords

GJB2; GJB6; Hearing loss; Tunisian patients

Indexed keywords

CONNEXIN 26; CONNEXIN 30;

EID: 84876700376     PISSN: 01655876     EISSN: 18728464     Source Type: Journal    
DOI: 10.1016/j.ijporl.2013.01.024     Document Type: Article
Times cited : (8)

References (34)
  • 1
    • 0036363375 scopus 로고    scopus 로고
    • The Colorado newborn hearing screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening
    • Mehl A.L., Thomson V. The Colorado newborn hearing screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening. Pediatrics 2002, 109:E7.
    • (2002) Pediatrics , vol.109
    • Mehl, A.L.1    Thomson, V.2
  • 3
    • 84876703939 scopus 로고    scopus 로고
    • The connexin-deafness homepage, available on:
    • The connexin-deafness homepage, available on: http://davinci.crg.es/deafness/.
  • 4
    • 0031007349 scopus 로고    scopus 로고
    • Connexin 26 mutations in hereditary nonsyndromic sensorineural deafness
    • Kelsell D.P., Dunlop J., Stevens H.P., Lench N.J., Liang J.N., Parry G., et al. Connexin 26 mutations in hereditary nonsyndromic 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    Lench, N.J.4    Liang, J.N.5    Parry, G.6
  • 6
    • 0030028301 scopus 로고    scopus 로고
    • The gap junction communication channel
    • Kumar N.M., Gilula N.B. The gap junction communication channel. Cell 1996, 84:381-388.
    • (1996) Cell , vol.84 , pp. 381-388
    • Kumar, N.M.1    Gilula, N.B.2
  • 7
    • 0032715880 scopus 로고    scopus 로고
    • Developmental expression patterns of connexin-26 and -30 in the rat cochlea
    • Lautermann J., Frank H.G., Jahnke K., Traub O., Winterhager E. Developmental expression patterns of connexin-26 and -30 in the rat cochlea. Dev. Genet. 1999, 25:306-311.
    • (1999) Dev. Genet. , vol.25 , pp. 306-311
    • Lautermann, J.1    Frank, H.G.2    Jahnke, K.3    Traub, O.4    Winterhager, E.5
  • 8
    • 0037046804 scopus 로고    scopus 로고
    • Targeted ablation of connexin 26 in the inner ear epithelial gap junction network causes hearing impairment and cell death
    • Cohen-Salmon M., Ott T., Michel V., Hardelin J.P., Perfettini I., Eybalin M., et al. Targeted ablation of connexin 26 in the inner ear epithelial gap junction network causes hearing impairment and cell death. Curr. Biol. 2002, 12:1106-1111.
    • (2002) Curr. Biol. , vol.12 , pp. 1106-1111
    • Cohen-Salmon, M.1    Ott, T.2    Michel, V.3    Hardelin, J.P.4    Perfettini, I.5    Eybalin, M.6
  • 9
    • 0033600946 scopus 로고    scopus 로고
    • Clinical phenotype and mutations in Cx26(DFNB1/GJB2), the most common cause of childhood hearing loss
    • Cohen E.S., Kelley P.M. Clinical phenotype and mutations in Cx26(DFNB1/GJB2), the most common cause of childhood hearing loss. Am. J. Med. Genet. 1999, 89:130-136.
    • (1999) Am. J. Med. Genet. , vol.89 , pp. 130-136
    • Cohen, E.S.1    Kelley, P.M.2
  • 10
    • 0028249690 scopus 로고
    • Anonsyndromic form of neurosensory recessive deafness maps to pericentromeric region of chromosome 13q
    • Guilford P., Arab S., BBlanchard S., Levilliers J., Weissenbach J., et al. Anonsyndromic form of neurosensory recessive deafness maps to pericentromeric region of chromosome 13q. Nat. Genet. 1994, 6:24-28.
    • (1994) Nat. Genet. , vol.6 , pp. 24-28
    • Guilford, P.1    Arab, S.2    BBlanchard, S.3    Levilliers, J.4    Weissenbach, J.5
  • 12
    • 64849085254 scopus 로고    scopus 로고
    • Prevalence of GJB2 and GJB6 mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling
    • Batissoco A.C., Abreu-Silva R.S., Braga M.C., Lezirovitz K., Della-Rosa V., Alfredo T., et al. Prevalence of GJB2 and GJB6 mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling. Ear Hear. 2009, 30(1):1-7.
    • (2009) Ear Hear. , vol.30 , Issue.1 , pp. 1-7
    • Batissoco, A.C.1    Abreu-Silva, R.S.2    Braga, M.C.3    Lezirovitz, K.4    Della-Rosa, V.5    Alfredo, T.6
  • 14
    • 0034324676 scopus 로고    scopus 로고
    • Determination of the frequency of connexin 26 mutations in inherited sensorineural deafness and carrier rates in Tunisian population using DGGE method
    • Masmoudi S., Elgaied-Boulila A., Kassab I., Ben Arab S., Blanchard S., Bouzovita J.E., et al. Determination of the frequency of connexin 26 mutations in inherited sensorineural deafness and carrier rates in Tunisian population using DGGE method. J. Med. Genet. 2000, 37:E39.
    • (2000) J. Med. Genet. , vol.37
    • Masmoudi, S.1    Elgaied-Boulila, A.2    Kassab, I.3    Ben Arab, S.4    Blanchard, S.5    Bouzovita, J.E.6
  • 15
    • 33646150467 scopus 로고    scopus 로고
    • Non-syndromic, autosomal-recessive deafness
    • Petersenm M.B., Willemsm P.J. Non-syndromic, autosomal-recessive deafness. Clin. Genet. 2006, 69:371-392.
    • (2006) Clin. Genet. , vol.69 , pp. 371-392
    • Petersenm, M.B.1    Willemsm, P.J.2
  • 16
    • 22244457367 scopus 로고    scopus 로고
    • Analysis of GJB2 mutation: evidence for a Mediterranean ancestor for 35delG mutation
    • Belguith H., Hajji S., Salem N., Charfeddine I., Lahmar I., Ben Amor M., et al. Analysis of GJB2 mutation: evidence for a Mediterranean ancestor for 35delG mutation. Clin. Genet. 2005, 68:188-189.
    • (2005) Clin. Genet. , vol.68 , pp. 188-189
    • Belguith, H.1    Hajji, S.2    Salem, N.3    Charfeddine, I.4    Lahmar, I.5    Ben Amor, M.6
  • 18
    • 27744466817 scopus 로고    scopus 로고
    • Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35 delG GJB2 mutation and absence of the 342-kb GJB6 variant
    • Gazzaz B., Weil D., Rais L., Akhyat O., Azeddoug H., Nadifi S., et al. Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35 delG GJB2 mutation and absence of the 342-kb GJB6 variant. Hear. Res. 2005, 210:80-84.
    • (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
  • 19
    • 0034098926 scopus 로고    scopus 로고
    • Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene
    • Rabionet R., Zelante L., López-Bigas N., D'Agruma L., Melchionda S., Restagno G., et al. Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Hum. Genet. 2000, 106((Jan) 1):40-44.
    • (2000) Hum. Genet. , vol.106 , Issue.1 JAN , pp. 40-44
    • Rabionet, R.1    Zelante, L.2    López-Bigas, N.3    D'Agruma, L.4    Melchionda, S.5    Restagno, G.6
  • 22
    • 0031949442 scopus 로고    scopus 로고
    • Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
    • Kelley P.M., Harris D.J., Comer B.C., Askew J.W., Fowler T., Smith S.D., et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am. J. Hum. Genet. 1998, 62:792-799.
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 792-799
    • Kelley, P.M.1    Harris, D.J.2    Comer, B.C.3    Askew, J.W.4    Fowler, T.5    Smith, S.D.6
  • 24
    • 0036821083 scopus 로고    scopus 로고
    • The prevalence of connexin 26 (GJB2) mutations in the Chinese population
    • [Epub 2002 Aug 16]
    • Liu X.Z., Xia X.J., Ke X.M., Ouyang X.M., Du L.L., Liu Y.H., et al. The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Hum. Genet. 2002, 111((Oct) 4-5):394-397. [Epub 2002 Aug 16].
    • (2002) Hum. Genet. , vol.111 , Issue.4-5 OCT , pp. 394-397
    • Liu, X.Z.1    Xia, X.J.2    Ke, X.M.3    Ouyang, X.M.4    Du, L.L.5    Liu, Y.H.6
  • 25
    • 34347358484 scopus 로고    scopus 로고
    • GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation
    • (Epub 2007 Jun 5)
    • Abidi O., Boulouiz R., Nahili H., Ridal M., Alami M.N., 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((Aug) 8):1239-1245. (Epub 2007 Jun 5).
    • (2007) Int. J. Pediatr. Otorhinolaryngol. , vol.71 , Issue.8 AUG , pp. 1239-1245
    • Abidi, O.1    Boulouiz, R.2    Nahili, H.3    Ridal, M.4    Alami, M.N.5    Tlili, A.6
  • 26
    • 33644793857 scopus 로고    scopus 로고
    • Congenital deafness: high prevalence of a V37I mutation in the GJB2 gene among deaf school children in Alor Setar
    • Ruszymah B.H., Wahida I.F., Zakinah Y., Zahari Z., Norazlinda M.D., Saim L., et al. Congenital deafness: high prevalence of a V37I mutation in the GJB2 gene among deaf school children in Alor Setar. Med. J. Malaysia 2005, 60((Aug) 3):269-274.
    • (2005) Med. J. Malaysia , vol.60 , Issue.3 AUG , pp. 269-274
    • Ruszymah, B.H.1    Wahida, I.F.2    Zakinah, Y.3    Zahari, Z.4    Norazlinda, M.D.5    Saim, L.6
  • 27
    • 84856809542 scopus 로고    scopus 로고
    • Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss. Gabriel Minarik, denisa tretinarova
    • Szemes T., Kadasi I. Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss. Gabriel Minarik, denisa tretinarova. Int. J. Pediatr. Otorhinolaryngol. 2012, 10.1016/j.ijporl.2011.12.020.
    • (2012) Int. J. Pediatr. Otorhinolaryngol.
    • Szemes, T.1    Kadasi, I.2
  • 28
    • 58149277091 scopus 로고    scopus 로고
    • Connexin gene 26 (GJB2) mutations in patients with hereditary non-syndromic sensorineural loss of hearing in the Republic of Sakha (Yakutia)
    • (Russian)
    • Barashkov N.A., Dzhemileva L.U., Fedorova S.A., Maksimova N.R., Khusnutdinova E.K. Connexin gene 26 (GJB2) mutations in patients with hereditary non-syndromic sensorineural loss of hearing in the Republic of Sakha (Yakutia). Vestn. Otorinolaringol. 2008, (5):23-28. (Russian).
    • (2008) Vestn. Otorinolaringol. , Issue.5 , pp. 23-28
    • Barashkov, N.A.1    Dzhemileva, L.U.2    Fedorova, S.A.3    Maksimova, N.R.4    Khusnutdinova, E.K.5
  • 29
    • 84876742339 scopus 로고    scopus 로고
    • Guy Van Camp, Mutation analysis of the GJB2 (Connexin 26) gene in Egypt, Human Mutation in Brief No. 821, 2005, Online.
    • R.L. Snoeckx, D.M. Hassan, N.M. Kamal, K. Van Den Bogaert, Guy Van Camp, Mutation analysis of the GJB2 (Connexin 26) gene in Egypt, Human Mutation in Brief No. 821, 2005, Online.
    • Snoeckx, R.L.1    Hassan, D.M.2    Kamal, N.M.3    Van Den Bogaert, K.4
  • 30
    • 67650744824 scopus 로고    scopus 로고
    • Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F
    • (Epub 2009 Apr 16) Jul-Aug
    • Ammar-Khodja F., Faugère V., Baux D., Giannesini C., Léonard S., Makrelouf M., et al. Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. Eur. J. Med. Genet. 2009, 52((Jul-Aug) 4):174-179. (Epub 2009 Apr 16).
    • (2009) Eur. J. Med. Genet. , vol.52 , Issue.4 , pp. 174-179
    • Ammar-Khodja, F.1    Faugère, V.2    Baux, D.3    Giannesini, C.4    Léonard, S.5    Makrelouf, M.6
  • 31
    • 9144251659 scopus 로고    scopus 로고
    • Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study
    • del Castillo I., Moreno-Pelayo M.A., del Castillo F.J., 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, 73:1452-1458.
    • (2003) Am. J. Hum. Genet. , vol.73 , pp. 1452-1458
    • del Castillo, I.1    Moreno-Pelayo, M.A.2    del Castillo, F.J.3    Brownstein, Z.4    Marlin, S.5    Adina, Q.6
  • 32
    • 44849098718 scopus 로고    scopus 로고
    • TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families
    • (Epub 2008 Feb 7)
    • Tlili A., Rebeh I.B., Aifa-Hmani M., Dhouib H., Moalla J., Tlili-Chouchène J., et al. TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families. Audiol. Neurootol. 2008, 13(4):213-218. (Epub 2008 Feb 7).
    • (2008) Audiol. Neurootol. , vol.13 , Issue.4 , pp. 213-218
    • Tlili, A.1    Rebeh, I.B.2    Aifa-Hmani, M.3    Dhouib, H.4    Moalla, J.5    Tlili-Chouchène, J.6
  • 33
    • 33144483509 scopus 로고    scopus 로고
    • Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss
    • Tlili A., Charfedine I., Lahmar I., Benzina Z., Mohamed B.A., Weil D., et al. Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss. Hum. Mutat. 2005, 25((May) 5):503.
    • (2005) Hum. Mutat. , vol.25 , Issue.5 MAY , pp. 503
    • Tlili, A.1    Charfedine, I.2    Lahmar, I.3    Benzina, Z.4    Mohamed, B.A.5    Weil, D.6
  • 34
    • 80052275996 scopus 로고    scopus 로고
    • A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family
    • (Epub 2011 Jul 13) Nov-Dec
    • Ben Saïd M., Ayedi L., Mnejja M., Hakim B., Khalfallah A., Charfeddine I., et al. A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family. Eur J Med Genet. 2011, 54((Nov-Dec) 6):e535-e541. (Epub 2011 Jul 13).
    • (2011) Eur J Med Genet. , vol.54 , Issue.6
    • Ben Saïd, M.1    Ayedi, L.2    Mnejja, M.3    Hakim, B.4    Khalfallah, A.5    Charfeddine, I.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.