A genotype-phenotype correlation for GJB2 (connexin 26) deafness

Journal of Medical Genetics

Volumn 41, Issue 3, 2004, Pages 147-154

  Cryns, K ^a   Orzan, E ^b   Murgia, A ^c   Huygen, P L M ^d   Moreno, F ^e   Del Castillo, I ^e   Parker Chamberlin, G ^f   Azaiez, H ^f   Prasad, S ^f   Cucci, R A ^f   Leonardi, E ^c   Snoeckx, R L ^a   Govaerts, P J ^g   Van De Heyning, P H ^a   Van De Heyning, C M ^a   Smith, R J H ^f   Van Camp, G ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e HOSPITAL RAMÓN Y CAJAL   (Spain)

^f UNIVERSITY OF IOWA HEALTH CARE   (United States)

^g Ear Group   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; AUDIOMETRY; CONTROLLED STUDY; CORRELATION ANALYSIS; GENE MUTATION; GENOTYPE; HEARING IMPAIRMENT; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MISSENSE MUTATION; OTORHINOLARYNGOLOGY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; UNIVERSITY HOSPITAL;

EID: 12144287717     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2003.013896     Document Type: Article

References (51)

1. Mehl AL, Thomson V. Newborn hearing screening: the great omission. Pediatrics 1998;101:E4.
2. 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.
3. Morton N. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 1991;630:16-31.
4. Van Camp G, Smith RJH. Hereditary hearing loss homepage. www.uia.ac.be/dnalab/hhh (accessed 28 November 2003).
5. Abe S, Usami S, Shinkawa H, Kelley PM, Kimberling WJ. Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet 2000;37:41-3.
6. Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, Dodé C, Marlin S, Boulila-ElGaïed A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha M, Loiselet J, El-Zir E, Aubois A, Joannard A, Levilliers J, Garabédian ÉN, Mueller RF, McKinlay Gardner RJ, Petit C. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 1997;6:2173-7.
7. Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA 1999;281:2211-6.
8. Liu XZ, Xia XJ, Ke XM, Ouyang XM, Du LL, Liu YH, Angeli S, Telischi FF, Nance WE, Balkany T, Xu LR. The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Hum Genet 2002;111:394-7.
9. Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Gavea N, Milá M, Della Monica M, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997;6:1605-9.
10. Denoyelle F, Lina-Granade G, Plauchu H, Bruzzone R, Chaib H, Lévi-Acobos F, Weil D, Petit C. Connexin 26 gene linked ta a dominant deafness. Nature 1998;393:319-20.
11. Morlé L, Bazon 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. J Med Genet 2000;37:368-70.
12. Kenneson A, Van Naarden Braun K, Boyle C. GJB2. (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review, Genet Med 2002;4:258-74.
13. Colvo J, Rabionet R, Gasparini P, Estivill X. Connexins and deafness homepage. www.crg.es/deafness (accessed 28 November 2003).
14. Gasparini P, Rabionet R, Barbujani G, Melchionda S, Petersen M, Petersen M, Brondum-Nielsen K, Metspalu A, Oitmaa E, Pisano M, Fortina P, Zelante L, Estivill X, Genetic Analysis Consortium of GJB2 35delG. High carrier frequency of the 35delG deafness mutation in European populations. Eur J Hum Genet 2000;8:19-23.
15. Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, Mansfield E, Rappaport E, Govea N, Milá M, Zelante L, Gosparini P. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998;351:394-8.
16. Van Laer L, Coucke P, Mueller RF, Caethoven G, Flothmann K, Prasad SD, Chamberlin GP, Houseman M, Taylor GR, Van de Heyning CM, Fransen E, Rowland J, Cucci RA, Smith RJ, Van Camp G. A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J Med Genet 2001;38:515-8.
17. Murgia A, Orzan E, Polli R, Martella M, Vinanzi C, Leonardi E, Arslan E, Zacchello F. Cx26 deafness: mutation analysis and clinical variability. J Med Genet 1999;36:829-32.
18. 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.
19. Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabédian ÉN, 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;353:1298-1303.
20. Orzan E, Polli R, Martella M, Vinanzi C, Leonardi M, Murgio A. Molecular genetics applied to clinical practice: the Cx26 hearing impairment. Br J Audiol 1999;33:291-5.
21. International Organization for Standardization. ISO 8253-1: Acoustics: audiometric test methods, I: basic pure tone air and bone conduction threshold audiometry. Geneva: International Organization for Standardization, 1989.
22. GENDEAF, European Thematic Network on Genetic Deafness, www.gendeaf.org (accessed 28 November 2003).
23. Scott DA, Kraft ML, Carmi R, Ramesh A, Elbedour K, Yairi Y, Srikumari Srisoilapathy CR, Rosengren SS, Markham AF, Mueller RF, Lench NJ, Van Camp G, Smith RJ, Sheffield VC. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum Mutat 1998;11:387-94.
24. 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). Hum Mutat 2000;16:502-8.
25. ConSeq web server, http://conseq.bioinfo.tau.ac.il/ (accessed 28 November 2003).
26. Griffith AJ, Friedman TB. Auditory function and the M34T allele of connexin 26. Arch Otolaryngol Head Neck Surg 2002;128:94.
27. Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 1998;62:792-9.
28. Rabionet R, Zelante L, López-Bigas N, D'Agruma L, Melchionda S, Restagno G, Arbonés ML, Gasparini P, Estivill X. Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Hum Genet 2000;106:40-4.
29. Wilcox SA, Saunders K, Osborn AH, Arnold A, Wunderlich J, Kelly T, Collins V, Wilcox LJ, McKinlay Gardner R, Kamarinos M, Cone-Wesson B, Williamson R, Dahl HH. High frequency hearing loss correlated with mutations in the GJB2 gene. Hum Genet 2000;106:399-405.
30. Bason L, Dudley T, Lewis K, Shah U, Potsic W, Ferraris A, Fortina P, Rappaport E, Krantz ID. Homozygosity for the V371 Connexin 26 mutation in three unrelated children with sensorineural hearing loss. Clin Genet 2002;61:459-64.
31. Kenna MA, Wu BL, Cotanche DA, Korf BR, Rehm HL. Connexin 26 studies in patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg 2001;127:1037-42.
32. Marlin S, Garabédian ÉN, Roger G, Moatti L, Matha N, Lewin P, Petit C, Denoyelle F. Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. Arch Otolaryngol Head Neck Surg 2001;127:927-33.
33. Engel-Yeger B, Zaaroura S, Zlotogora J, Shalev S, Hujeirat Y, Carrasquillo MM, Saleh B, Pratt H. Otoacoustic emissions and brainstem evoked potentials in compound carriers of connexin 26 mutations. Hear Res 2003;175:140-51.
34. Janecke AR, Hirst-Stadlmann A, Günther B, Utermann B, Müller T, Löffler J, Utermann G, Nekahm-Heis D. 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.
35. Löffler J, Nekahm D, Hirst-Stadlmann A, Günther B, Menzel HJ, Utermann G, Janecke AR. Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. Eur J Hum Genet 2001;9:226-30.
36. Zoll B, Petersen L, Lange K, Gabriel P, Kiese-Himmel C, Rausch P, Berger J, Pasche B, Meins M, Gross M, Berger R, Kruse E, Kunz J, Sperling K, Lococone F. Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c. 101T>C) and -493del10. Hum Mutat 2003;20:98.
37. Pampanos A, Economides J, Iliadou V, Neou P, Leotsakos P, Voyiatzis N, Eleftheriades N, Tsakanikos M, Antoniadi T, Hatzaki A, Konstantopoulou I, Yannoukakos D, Gronskov K, Brondum-Nielsen K, Grigoriadou M, Gyftadimou J, Iliades T, Skevas A, Petersen MB. Prevalence of GJB2 mutations in prelingual deafness in the Greek population. Int J Pediatr Otorhinolaryngol 2002;65:101-8.
38. Gabriel H, Kupsch P, Sudendey J, Winterhager E, Jahnke K, Lautermann J. Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population. Hum Mutat 2001;17:521-2.
39. 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. Int J Pediatr Otorhinolaryngol 1999;50:3-13.
40. Sobe T, Vreugde S, Shahin H, Berlin M, Davis N, Kanoan 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. Hum Genet 2000;106:50-7.
41. D'Andrea P, Veronesi V, Bicego M, Melchionda S, Zelante L, Di Iorio E, Bruzzone R, Gasparini P. Hearing loss: frequency and functional studies of the most common connexin26 alleles. Biochem Biophys Res Commun 2002;296:685-91.
42. Shahin H, Walsh T, Sobe T, Lynch E, King MC, Avraham KB, Kanaan M. Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East. Hum Genet 2002;110:284-9.
43. Bruzzone R, Veronesi V, Gomès D, Bicego M, Duval N, Marlin S, Petit C, D'Andrea P, White TW. Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness. FEBS Lett 2003;533:79-88.
44. Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL, Bale SJ. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genet 1998;103:393-9.
45. Martin PE, Coleman SL, Casolotti SO, Forge A, Evans WH. Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness. Hum Mol Genet 1999;8:2369-76.
46. White TW, Deans MR, Kelsell DP, Paul DL. Connexin mutations in deafness. Nature 1998;394:630-1.
47. Wang H-L, Chang W-T, Li AH, Yeh T-H, Wu C-Y, Chen M-S, Huang P-C. Functional analysis of connexin-26 mutants associated with hereditary recessive deafness. J Neurochem 2003;84:735-742.
48. Thönnissen E, Rabionet R, Arbonès ML, Estivill X, Willecke K, Ott T. Human connexin26 (GJB2) deafness mutations affect the function of gop junction channels at different levels of protein expression. Hum Genet 2002;111:190-7.
49. Stauffer KA. The gap junction proteins beta 1-connexin (connexin-32) and beta 2-connexin (connexin-26) can form heteromeric hemichannels. J Biol Chem 1995;270:6768-72.
50. Lee MJ, Rhee SK. Heteromeric gap junction channels in rat hepatocytes in which the expression of connexin26 is induced. Mol Cells 1998;8:295-300.
51. Govoerts PJ, Yperman M, De Ceulaer G, Daemers K, Van Driessche K, Somers T, Offeciers FE. A two-stage bipodal screening model for universal neonatal hearing screening. Otol Neurotol 2001;22:850-4.