Audiological Manifestations and Features of Connexin 26 Deafness

REFERENCES

• Abe S, Kelley PM, Kimberling WJ, Usami SI. Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A>G mitochondrial mutation. American Journal of Medical Genetics 2001; 103: 334—8.
   PubMed Web of Science ®Google Scholar
• Cohn ES, Kelley PM, Fowler TW, Gorga MP, Lefkowitz DM, Kuehn HJ, Schaefer GB, Gobar LS, Hahn FJ, Harris DJ, Kimberling WJ. Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/ DFNB1). Pediatrics 1999; 103: 546–50.
   PubMed Web of Science ®Google Scholar
• Cucci RA, Prasad S, Kelley PM, Green GE, Storm K, Willcox S, Cohn ES, Van Camp G, Smith RJ. The M34T allele variant of connexin 26. Genetic Testing 2000; 4: 335–44.
   PubMedGoogle Scholar
• del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Telleria D, Menendez I, Moreno F. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. New England Journal of Medicine. 2002; 346: 243–9.
   PubMed Web of Science ®Google Scholar
• Denoyelle F, Lina-Granade G, Plauchu H, Bruzzone R, Chaib H, Levi-Acobas F, Weil D, Petit C. Connexin 26 gene linked to a dominant deafness. Nature 1998; 393: 319–20.
   PubMed Web of Science ®Google Scholar
• Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabedian EN, Petit C. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 1999; 353: 1298–303.
   PubMed Web of Science ®Google Scholar
• Engel-Yeger B, Zaaroura S, Zlotogora J, Shalev S, Hujeirat Y, Carrasquillo M, Barges S, Pratt H. The effects of a connexin 26 mutation -35delG -on oto-acoustic emissions and brainstem evoked potentials: homozygotes and carriers. Hearing Research 2002; 163: 93–100.
   PubMed Web of Science ®Google Scholar
• Estivill X, Fortina P, Surrey S, et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998; 351: 394–8.
   PubMed Web of Science ®Google Scholar
• Fukushima K, Sugata K, Kasai N, Fukuda S, Nagayasu R, Toida N, Kimura N, Takishita T, Gunduz M, Nishizaki K. Better speech performance in cochlear implant patients with GJB2related deafness. International Journal of Pediatric Otorhinolaryngology 2002; 62: 151—7.
   PubMed Web of Science ®Google Scholar
• Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJH. Carrier rates in the Midwestern United States for GJB2 mutations causing inherited deafness. Journal of the American Medical Association 1999; 281: 2211—2216.
   PubMed Web of Science ®Google Scholar
• Green GE, Smith RJ, Bent JP, Cohn ES. Genetic testing to identify deaf newborns. Journal of the American Medical Association 2000; 284: 1245.
   PubMed Web of Science ®Google Scholar
• Green GE, Scott DA, McDonald JM, Tegle HFB, Tombling BJ, Spencer LJ, Woodworth GG, Knutson JF, Gantz BJ, Sheffield VC, Smith RJH (2002) Performance of Cochlear Implant Recipients with GJB2-related Deafness. Journal of Medical Genetics 2003; 109: 167—170.
   Google Scholar
• Guilford P, Ben Arab S, Blanchard S, Levilliers J, Weissenbach J, Belkahia A, Petit C. A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nature Genetics 1994; 6: 24—8.
   PubMed Web of Science ®Google Scholar
• Hamelmann C, Amedofu GK, Albrecht K, Muntau B, Gelhaus A, Brobby GW, Horstmann RD. Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. Human Mutation 2001; 18: 84—5.
   PubMedGoogle Scholar
• Hand GM, Muller DJ, Nicholson BJ, Engel A, Sosinsky GE. Isolation and characterization of gap junctions from tissue culture cells. Journal of Molecular Biology 2002; 315: 587— 600.
   PubMed Web of Science ®Google Scholar
• Houseman MJ, Ellis LA, Pagnamenta A, Di WL, Rickard S, Osborn AH, Dahl HH, Taylor GR, Bitner-Glindzicz M, Reardon W, Mueller RF, Kelsell DP. Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/ M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. Journal of Medical Genetics 2001; 38(1): 20—5.
   PubMed Web of Science ®Google Scholar
• Jacobsen SD, Gronskov K, Brondum-Nielsen K, Parving A. Is there a relationship between U-shaped audiograms and mutations in connexin 26? Scandinavian Audiology 2001; 30: 184—8.
   PubMed Web of Science ®Google Scholar
• Jun AI, McGuirt WT, Hinojosa R, Green GE, Fischel-Ghodsian N, Smith RJH. Temporal bone histopathology in connexin 26-related hearing loss. Laryngoscope 2000; 110: 269—75.
   PubMed Web of Science ®Google Scholar
• Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997; 387: 80—3.
   PubMed Web of Science ®Google Scholar
• Kelsell DP, Di WL, Houseman MJ. Connexin mutations in skin disease and hearing loss. American Journal of Human Genetics 2001; 68: 559—68.
   PubMed Web of Science ®Google Scholar
• Kenna MA, Wu BL, Cotanche DA, Kork BR, Rehm HL. Connexin 26 studies in patients with sensorineural hearing loss. Archives of Laryngology, Head & Neck Surgery 2001; 127: 1037—42.
   PubMed Web of Science ®Google Scholar
• Kikuchi T, Adams JC, Miyabe Y, So E, Kobayashi T. Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness. Medical Electron Microscopy 2000; 33: 51—6.
   PubMedGoogle Scholar
• Lerer I, Sagi M, Ben-Neriah Z, Wang T, Levi H, Abeliovich D. A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: a novel founder mutation in Ashkenzi Jews. Human Mutation 2001; 18: 460.
   PubMedGoogle Scholar
• Marlin S, Garabedian EN, Roger G, Moatti L, Matha N, Lewin P, Petit C, Denoyelle F. Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. Archives of Otolaryngology, Head & Neck Surgery 2001; 127: 927—33.
   PubMedGoogle Scholar
• Morell RJ, Kim HJ, Hood LJ, Goforth L, Friderici K, Fisher R, Van Camp G, Berlin CI, Oddoux C, Ostrer H, Keats B, Friedman TB. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. New England Journal of Medicine 1998; 339: 1500—5.
   PubMed Web of Science ®Google Scholar
• Morle L, Bozon M, Alloisio N, Latour P, Vandenberghe A, Plauchu H, Collet L, Edery P, Godet J, Lina-Granade G. A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. Journal of Medical Genetics 2000; 37: 368—70.
   PubMed Web of Science ®Google Scholar
• Morton NE. Genetic epidemiology of hearing impairment. Annals of New York Academy of Sciences 1991; 630: 16—31.
   PubMed Web of Science ®Google Scholar
• Mueller RF, Nehammer A, Middleton A, Houseman M, Taylor GR, Bitner-Glindzciz M, Van Camp G, Parker M, Young ID, Davis A, Newton VE, Lench NJ. Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations—molecular and audiological findings. International Journal of Pediatric Otorhinolaryngology 1999; 50: 3—13.
   PubMed Web of Science ®Google Scholar
• Pallares-Ruiz N, Blanchet P, Mondain M, Claustres M, Roux AF. A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? European Journal of Human Genetics 2002; 10: 72—76.
   PubMed Web of Science ®Google Scholar
• Prasad S, Cucci RA, Green GE, Smith RJ. Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA). Human Mutation 2000; 16: 502—8.
   PubMed Web of Science ®Google Scholar
• Rabionet R, Gasparini P, Estivill X. Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Human Mutation 2000; 16: 190–202.
   PubMed Web of Science ®Google Scholar
• Sobe T, Vreugde S, Shahin H, Davis N, Berlin M, Kanaan M, Yaron Y, Orr-Urtreger A, Frydman M, Shohat M, Avraham KB. The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population. Human Genetics 2000; 106: 50–57.
   PubMed Web of Science ®Google Scholar
• Tekin M, Arnos KS, Pandya A. Advances in hereditary deafness. Lancet 2001; 358: 1082–90.
   PubMed Web of Science ®Google Scholar
• Wilcox SA, Saunders K, Osborn AH, Arnold A, Wunderlich J, Kelly T, Collins V, Wilcox LJ, McKinlay Gardner RJ, Kamarinos M, Cone-Wesson B, Williamson R, Dahl HH. High frequency hearing loss correlated with mutations in the GJB2 gene. Human Genetics 2000; 106: 399–405.
   PubMed Web of Science ®Google Scholar