Genetics of congenital hearing impairment: A clinical approach

International Journal of Audiology

Volumn 47, Issue 9, 2008, Pages 535-545

  Tranebjœrg, Lisbeth ^a,b  

^a BISPEBJERG HOSPITAL   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Connexin 26; Genetics; Hearing; Neonatal hearing screening

Indexed keywords

CONNEXIN 26; MYOSIN;

ARTICLE; AUDIOLOGY; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL EVALUATION; COCHLEA PROSTHESIS; CONGENITAL DEAFNESS; FOLLOW UP; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GENETICS; HUMAN; MEDICAL EXAMINATION; MICROARRAY ANALYSIS; NEWBORN SCREENING; PRIORITY JOURNAL;

CONNEXINS; EARLY DIAGNOSIS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HEARING DISORDERS; HEARING TESTS; HUMANS; INFANT; INFANT, NEWBORN; MUTATION; MYOSINS; NEONATAL SCREENING; PREDICTIVE VALUE OF TESTS; PROGNOSIS; REPRODUCIBILITY OF RESULTS; RISK FACTORS;

EID: 52949116850     PISSN: 14992027     EISSN: 17088186     Source Type: Journal    
DOI: 10.1080/14992020802249259     Document Type: Article

References (58)

1. Alvarez, A., del Castillo, I., Pera, A., Villamar, M., Moreno-Pelayo, M.A., et al. 2003. Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin 26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients. J Med Genet, 40, 636-9.
2. Bamiou, D.E., Macardle, B., Bitner-Glindzicz, M. & Sirimanna, T. 2000. Aetiological investigations of hearing loss in childhood: A review. Clin Otolaryngol, 25, 98-106.
3. Bason, L., Dudley, T., Lewis, K., Shah, U., Potsic, W., et al. 2002. Homozygosity for the V37I connexin 26 mutation in three unrelated children with sensorineural hearing loss. Clin Genet, 61, 459-64.
4. Bitner-Glindzicz, M. 2002. Hereditary deafness and phenotyping in humans. Br Med Bull, 63, 73-94.
5. Dahl, H-H.M., Wake, M., Sarant, J., Poulakis, Z., Siemering, K., et al. 2003. Language and speech perception outcomes in hearing-impaired children with and without connexin 26 mutations. Audiol Neurotol, 8, 263-8.
6. Dahl, H-H.M, Tobin, S.E., Poulakis, Z., Richards, F.W., Xu, X., et al. 2006. The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children. J Med Genet, 43, 850-5.
7. del Castillo, F.J., Rodriguez-Ballesteros, M., Alvarez, A., Hutchin, T., Leonardi, E., et al. 2005. A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J Med Genet, 42, 588-94.
8. Eisen, M.D. & Ryugo, D.K. 2007. Hearing molecules: Contributions from genetic deafness. Cell Mol Life Sci, 64, 566-80.
9. Fortnum, H.M., Summerfield, A.Q., Marshall, D.H., Davis, A.C. & Bamford, J.M. 2001. Prevalence of permanent hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: Questionnaire based ascertainment study. BMJ, 323, 536-40.
10. Frei, K., Ramsebner, R., Hamader, G., Lucas, T., Schoefer, C., et al. 2004. Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria. Hear Res, 194, 81-6.
11. Gardner, P., Oitmaa, E., Messner, A., Hoefsloot, L., Metspalu, A., et al. 2006. Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: A new approach for newborn screening follow-up. Pediatrics, 118, 985-94.
12. GeneTests: www.genetests.org
13. Genetic evaluation of congenital hearing loss expert panel. 2002. Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss. Genet Med, 4, 162-71.
14. Hismi, B.Ö., Yilmaz, S.T., Incesulu, A. & Tekin, M. 2006. Effects of GJB2 genotypes on the audiological phenotype: Variability is present for all genotypes. Int J Pediatr Otorhinolaryngol, 70, 1687-94.
15. Joint Committee on Infant Hearing, American Academy of Audiology, American Academy of Pediatrics, American Speech-Language-Hearing Association, and Directors of Speech and Hearing Programs in State Health and Welfare Agencies. Year 2007 position statement: Principles and guidelines for early hearing detection and intervention programs. Pediatrics, 120, 898-921.
16. Kaimal, G., Steinberg, A.G., Ennis, S., Harasink, S.M., Ewing, R., et al. 2007. Parental narratives about genetic testing for hearing loss: A one year follow-up study. J Genet Counsel, 16, 775-87.
17. Kenna, M.A., Wu, B-L., Cotanche, D.A., Korf, B.R. & Rehm, H. 2001. Connexin 26 studies in patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg, 127, 1037-42.
18. Kenna, M.A., Rehm, H.L., Robson, C.D., Frangulov, A., McCallum, J., et al. 2007. Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations. Am J Med Genet, 143A, 1560-66.
19. Kokotas, H., Petersen, M.B. & Willems, P.J. 2007. Mitochondrial deafness. Clin Genet, 71, 379-81.
20. Liu, X-Z., Xia, X.J., Xu, L.R., Pandya, A., Liang, C.Y., et al. 2000. Mutations in connexin 31 underlie recessive as well as dominant non-syndromic hearing loss. Hum Mol Genet, 9, 63-7.
21. Liu, X.Z., Xia, X.J., Adams, J., Chen, Z.Y., Welch, K.O., et al. 2001. Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. Hum Mol Genet, 10, 2945-51.
22. Lustig, L.R., Lin, D., Venick, H., Larky, J., Yeagle, J., et al. 2004. GJB2 gene mutations in cochlear implant recipients. Prevalence and impact on outcome. Arch Otolaryngol Head Neck Surg, 130, 541-6.
23. Mazzoli, M., Van Camp, G., Newton, V., Giabini, N., Declau, F., et al. 2003. Gen Deaf: Recommendations for the description of genetic and audiological data for families with nonsyndromic hereditary hearing impairment. Audiol Med, 1, 148-50.
24. Mazzoli, M., Newton, V., Murgia, A., Bitner-Glindnicz, M., Gasparini, P., et al. 2004. Int J Pediatr Otorhinolaryngol, 68, 1397-98.
25. Morton, C.C. & Nance, W.E. 2006. Newborn hearing screening: A silent revolution. NEJM, 354, 20, 2151-64.
26. Niceta, M., Fabiano, C., Sammarco, P., Piccione, M., Antona, V., et al. 2007. Research letter. Epidemiological study of nonsyndromic hearing loss in Sicilian newborns. Am J Med Genet, 143A, 1666-70.
27. OMIM, Online Mendelian Inheritance in Man www.ncbi.nlm.nih.gov/sites/ entrez?db=omim
28. Norris, V.N., Arnos, K.S., Hanks, W.D., Xia, X., Nance, W.E., et al. 2006. Does newborn universal hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness. Ear Hear, 27, 732-41.
29. Oliveira, C.A., Alexandrino, F., Christiani, T.V., Steiner, C.E., Cunha, J.L.R., et al. 2007. Molecular genetics study of deafness in Brazil: Eight-year experience. Am J Med Genet, 143A, 1574-9.
30. Pandya, A. & Arnos, K.S. 2006. Genetic evaluation and counseling in the context of early hearing detection and intervention. Semin Hear, 27, 205-12.
31. Parving, A., Hauch, A.M. & Christensen, B. 2003. Permanent childhood hearing impairment: Epidemiology, age at identification, and causative factors. (in Danish). Ugeskr Læger, 165, 574-9.
32. Petersen, M.B. 2002. Non-syndromic autosomal-dominant deafness. Clin Genet, 62, 1-13.
33. Petersen, M.B. & Willems, P.J. 2006. Non-syndromic, autosomal-recessive deafness. Review. Clin Genet, 69, 371-92.
34. Petersen, M.B., Wang, Q. & Willems, P.J. 2008. Sex-linked deafness. Review. Clin Genet, 73, 14-23.
35. Preciado, D.A., Lim, L.H.M., Cohen, A.P., Madden, C., Myer, D., et al. 2004. A diagnostic paradigm for childhood idiopathic sensorineural hearing loss. Otolaryngol Head Neck Surg, 131, 804-13.
36. Propst, E.J., Blaser, S., Stockley, T.L., Harrison, R.V. & Gordon, K.A., et al. 2006a. Temporal bone imaging in GJB2 deafness. Laryngoscope, 116, 2178-86.
37. Propst, E.J., Stockley, T.L., Gordon, K.A., Harrison, R.V. & Papsin, B.C. 2006b. Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multicultural Canadian cochlear implant program. Int J Pediatr Otorhinolaryngol, 70, 435-44.
38. Pryor, S.P., Madeo, A.C., Reynolds, J.C., Sarlis, N.J., Arnos, K.S., et al. 2005. SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): Evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet, 42, 159-65.
39. Putcha, G.V., Beijani, B.A., Bleoo, S., Booker, J.K., Carey, J.C., et al. 2007. A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet Med, 9, 413-26.
40. Ramsebner, R., Volker, R., Lucas, T., Hamader, G., Weipoltshammer, K., et al. 2007. High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria. Ear Hear, 28, 298-301.
41. Ravecca, F., Berrettini, S., Forli, F., Marcaccini, M., Casani, A., et al. 2005. Cx26 gene mutations in idiopathic progressive hearing loss. J Otolaryngol, 34, 126-34.
42. Rehm, H.L. 2005. A genetic approach to the child with sensorineural hearing loss. Semin Perinatol, 29, 173-81.
43. Richard, G. 2003. Connexin gene pathology. Review Exp Dermatol, 28, 1-13.
44. Robin, N.H. 2005a. Genetic testing for deafness is here, but how do we do it? Genet Med, (editorial) 6(6), 463-4.
45. Robin, N.H., Prucka, A.K., Woolley, A.L. & Smith, R.J.H. 2005b. The use of genetic testing in the evaluation of hearing impairment in a child. Editorial review. Curr Opin Pediatr, 17, 709-12.
46. Santos, R.L.P., Aulchenko, Y.S., Huygen, P.L.M., Donk, K.P. Van der, de Wijs, I.J., et al. 2005. Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations. Int J Pediatr Otorhinol, 69, 165-74.
47. Schimmenti, L.A., Martinez, A., Fox, M., Crandall, B. & Shapiro, N., et al. 2004. Genetic testing as part of the early hearing detection and intervention (EHDI) process. Genet Med, 6, 521-5.
48. Schrijver, I. & &Chang, K.W. 2006. Two patients with the V37I/235delC genotype: Are radiographic cochlear anomalies part of the phenotype? Int J Pediatr Otorhinolaryngol, 70, 2109-13.
49. Seeman, P. & &Sakmaryova, I. 2006. High prevalence of the IVS1+1G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2. Clin Genet, 69, 410-3.
50. Snoeckx, R.L., Huygen, P.L.M., Feldmann, D., Marlin, S., Denoyelle, F., et al. 2005. GJB2 mutations and degree of hearing loss: A multicenter study. Am J Hum Genet, 77, 945-57.
51. The Connexin-deafness homepage: http://davinci.crg.es/deafness
52. Van Eyken, E., Van Laer, L., Fransen, E., Topsakal, V., Hendrickx, J-J., et al. 2007. The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss. Otol Neurotol, 28, 970-5.
53. Wattanasirichaigoon, D., Limwongse, C., Jariengprasert, C., Yenchitsomanus, P.T., Tocharoenthanaphol, C., et al. 2004. High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among nonsyndromic hearing-impaired and control Thai individuals. Clin Genet, 66, 452-60.
54. Van Camp G. & Smith R.J.H. Hereditary Hearing Loss Homepage http://webhost.ua.ac.be/hhh/
55. Wilch, E., Zhu, M., Burkhart, K.B., Regier, M., Elfenbein, J.L., et al. 2006. Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele. Am J Hum Genet, 79, 174-9.
56. Wiley, S., Choo, D., Meinzen-Derr, J., Hilbert, L. & Greinwald, J. 2006. GJB2 mutations and additional disabilities in a pediatric cochlear implant population. Int J Pediatr Otorhinolaryngol, 70, 493-500.
57. Withrow K.A., Burton S., Arnos K.S., Kalfoglou A., Pandya A. 2007. Consumer motivations for pursuing genetic testing and their preferences for the provision of genetic services for hearing loss. J Genet Counsel. E-publication, ahead of publication.
58. Yang, J-J., Huang, S-H., Chou, K-H., Liao, P-J., Su, C-C., et al. 2007. Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan. Audiol Neurotol, 12, 198-208.