241
Views
12
CrossRef citations to date
0
Altmetric
INNER EAR

Mutation analysis of the Cx26, Cx30, and Cx31 genes in autosomal recessive nonsyndromic hearing impairment

, MD, , &
Pages 1056-1062 | Received 31 Oct 2007, Published online: 08 Jul 2009

References

  • Sinnathuray AR, Toner JG, Geddis A, Clarke-Lyttle J, Patterson CC, Hughes AE. Auditory perception and speech discrimination after cochlear implantation in patients with connexin 26 (GJB2) gene-related deafness. Otol Neurotol 2004; 25: 930–4
  • 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
  • Antoniadi T, Gronskov K, Sand A, Pampanos A, Brondum-Nielsen K, Petersen MB. Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness. Hum Mutat 2000; 16: 7–12
  • Gurtler N, Kim Y, Mhatre A, Muller R, Probst R, Lalwani AK. GJB2 mutations in the Swiss hearing impaired. Ear Hear 2003; 24: 440–7
  • Lench N, Houseman M, Newton V, Van Camp G, Mueller R. Connexin-26 mutations in sporadic non-syndromal sensorineural deafness. Lancet 1998; 351: 415
  • Löffler J, Nekahm D, Hirst-Stadlmann A, Günther B, Menzel HJ, Utermann G, et al. Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. Eur J Hum Genet 2001; 9: 226–30
  • 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: 40–4
  • Van Laer L, Coucke P, Mueller RF, Caethoven G, Flothmann K, Prasad SD, et al. A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J Med Genet 2001; 38: 515–18
  • Azaiez H, Chamberlin GP, Fischer SM, Welp CL, Prasad SD, Taggart RT, et al. GJB2: the spectrum of deafness-causing allele variants and their phenotype. Hum Mutat 2004; 24: 305–11
  • Bruzzone R, White TW, Paul DL. Connections with connexins: the molecular basis of direct intercellular signaling. Eur J Biochem 1996; 238: 1–27
  • Lee MJ, Rhee SK. Heteromeric gap junction channels in rat hepatocytes in which the expression of connexin26 is induced. Mol Cell 1998; 8: 295–300
  • Lopez-Bigas N, Arbones ML, Estivill X, Simonneau L. Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea. Gene Expr Patterns 2002; 2: 113–17
  • Lautermann J, ten Cate WJ, Altenhoff P, Grümmer R, Traub O, Frank H, et al. Expression of the gap-junction connexins 26 and 30 in the rat cochlea. Cell Tissue Res 1998; 294: 415–20
  • del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Tellería D, et al. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med 2002; 346: 243–9
  • Del 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: a multicenter study. Am J Hum Genet 2003; 73: 1452–8
  • Liu XZ, Xia XJ, Xu LR, Pandya A, Liang CY, Blanton SH, et al. Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. Hum Mol Genet 2000; 9: 63–7
  • Alexandrino F, Oliveira CA, Reis FC, Maciel-Guerra AT, Sartorato EL. Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness. J Appl Genet 2004; 45: 249–54
  • Mhatre AN, Weld E, Lalwani AK. Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment. Clin Genet 2003; 63: 154–9
  • López-Bigas N, Rabionet R, Martinez E, Banchs I, Volpini V, Vance JM, et al. Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene. Hum Mutat 2000; 15: 481–2
  • Taylor CF, Charlton RS, Burn J, Sheridan E, Taylor GR. Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. Hum Mutat 2003; 22: 428–33
  • Lucotte G, Dieterlen F. The 35delG mutation in the connexin 26 gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient Greece. Genet Test 2005; 9: 20–5
  • De Oliveira CA, Alexandrino F, Christiani TV, Steiner CE, Cunha JL, Guerra AT, et al. Molecular genetics study of deafness in Brazil: 8-year experience. Am J Med Genet A 2007; 143: 1574–9
  • Rickard S, Kelsell DP, Sirimana T, Rajput K, MacArdle B, Bitner-Glindzicz M. Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families. J Med Genet 2001; 38: 530–3
  • Santos 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 non-syndromic hearing impairment. Clin Genet 2005; 67: 61–8
  • RamShankar M, Girirajan S, Dagan O, Ravi Shankar HM, Jalvi R, Rangasayee R, et al. Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India. J Med Genet ;:e 2003; 40: 68
  • Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS, Leigh IM. Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Eur J Hum Genet 2000; 8: 469–72
  • Di WL, Monypenny J, Common JE, Kennedy CT, Holland KA, Leigh IM, et al. Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations. Hum Mol Genet 2002; 11: 2005–14

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.