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Original Article

Audiological profiles and gjb2, gjb6 mutations: A retrospective study on genetic and clinical data from 2003 to 2008

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Pages 93-105 | Published online: 13 Aug 2009

References

  • Mehl AL, 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
  • Piatto VB, Moreira OA, Silva MA, Maniglia JV, Pereira MC, Sartorato EL. Correlation between audiometric data and the 35delG mutation in 10 patients. Rev Bras Otorrinolaringol. 2007; 73: 777–83
  • Welch KO, Marin RS, Pandya A, Arnos KS. Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature. Am J Med Genet. Part A 2007; 143: 1567–73
  • Lai-Cheong JE, Arita K, McGrath J. Genetic disease of junctions. J Investig Dermatol. 2007; 127: 2713–25
  • Yum SW, Zhang J, Valiunas V, Kanaporis G, Brink PR, White TW, et al. Human Connexin 26 and Connexin 30 form functional heteromeric and heterotypic channels. Am J Physiol Cell Physiol. 2007; 293: 1032–48
  • Nickel R, Forge A. Gap junctions and connexins in the inner ear: their roles in homeostasis and deafness. Curr Opin Otolaryngol Head Neck Surg. 2008; 16: 452–7
  • Cryns K, Orzan E, Murgia A, Huygen PLM, Moreno F, del Castillo I, et al. A genotype-phenotype correlation for GJB2 (Connexin 26) deafness. J Med Genet. 2004; 41: 147–54
  • Green GE, Cohn ES, Avraham KB, Kanaan MB, Smith RJH. Audiological manifestations and features of Connexin 26 deafness. Audiol Med. 2003; 1: 5–11
  • 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 non-syndromic hearing loss in the Israeli population. Hum Genet. 2000; 106: 50–7
  • Liu XZ, Pandya A, Angeli S, Telischi FF, Arnos KS, Nance WE, et al. Audiological features of GJB2 (Connexin 26) deafness. Ear Hear. 2005; 26: 361–9
  • Park HJ, Hahn SH, Chun YM, Park K, Kim HN. Connexin 26 mutations associated with non-syndromic hearing loss. Laryngoscope. 2000; 110: 1535–8
  • Hwa HL, Ko TM, Hsu CJ, Chiang YL, Oong JL, Chen CC, et al. Mutation spectrum of the Connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness. Genet Med. 2003; 5: 161–5
  • Snoeckx RL, Huygen PLM, Feldmann D, Marlin S, Denoyelle F, Waligora J, et al. GJB2 mutations and degree of hearing loss: a multicentre study. Am J Hum Genet. 2005; 77: 945–57
  • Dahl H-H M, Tobin SE, Poulakis Z, Rickards FW, Xu X, Gillam L, et al. The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children. J Med Genet. 2006; 43: 850–5
  • Cama E, Melchionda S, Palladino T, Carella M, Santarelli R, Genovese E, et al. Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort. Int J Audiol. 2009; 48: 12–7
  • Gualandi F, Ravani A, Berto A, Sensi A, Trabanelli C, Falciano F, et al. Exploring the clinical and epidemiological complexity of GJB2-linked deafness. Am J Med Genet. 2002; 112: 38–45
  • del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Telleria D, et al. A deletion involving Connexin 30 gene in non-syndromic hearing impairment. N Engl J Med. 2002; 346: 243–9
  • Gualandi F, Ravani A, Berto A, Burdo S, Trevisi P, Ferlini A, et al. Occurrence of Del(GJB6–D13S) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele. Acta Otolaryngol. 552 (Suppl) 1830; 2004: 29–34
  • Roux AF, Pallares-Ruiz N, Vielle A, Faugère V, Templin C, Leprevost D, et al. Molecular epidemiology of DFNB1 deafness in France. BMC Med Genet. 2004; 5: 5
  • Kenneson A, van Naarden Braun K, Boyle C. GJB2 (Connexin 26) variants and non-syndromic sensorineural hearing loss: a huge review. Genet Med. 2002; 4: 258–74
  • Boothroyd A, Cawkwell S. Vibrotactile thresholds in pure-tone audiometry. Acta Otolaryngol. 1970; 69: 381–7
  • Bicego M, Beltramello M, Melchionda S, Carella M, Piazza V, Zelante L, et al. Pathogenetic role of the deafness-related M34T mutation of Cx26. Hum Mol Genet. 2006; 15: 2569–87
  • Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabedian EN, et al. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a Connexin 26 gene defect: implications for genetic counselling. Lancet. 1999; 353: 1298–1303
  • Andreas R, Janecke AR, Hirst-Stadlmann A, Günther B, Utermann B, Müller T, et al. Progressive hearing loss and recurrent sudden sensorineural hearing loss associated with GJB2 mutations – phenotypic spectrum and frequencies of GJB2 mutations in Austria. Hum Genet. 2002; 111: 145–53
  • Tekin M, Duman T, Bo(oçlu G, Incesulu A, Cin S, Akar N. Moderate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (Connexin 26) gene. Genet Couns. 2003; 14: 379–86
  • Hanson MA, Brooun A, Baker KA, Jaakola VP, Roth C, Chien EY, et al. Profiling of membrane protein variants in a baculovirus system by coupling cell-surface detection with small-scale parallel expression. Protein Expr Purif. 2007; 56: 85–92
  • Kumar NM, Gilula NB. The Gap Junction Review Communication Channel. Cell. 1996; 84: 381–8
  • Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, et al. Novel mutations in the Connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet. 1998; 62: 792–9

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