Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: Implications for diagnosis and genetic counseling

Ear and Hearing

Volumn 30, Issue 1, 2009, Pages 1-7

  Batissoco, Ana Carla ^a   Abreu Silva, Ronaldo Serafim ^a   Braga, Maria Cristina Célia ^a   Lezirovitz, Karina ^a   Della Rosa, Valter ^b   Alfredo Jr , Tabith ^c   Otto, Paulo Alberto ^a   Mingroni Netto, Regina Célia ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b STATE UNIVERSITY OF MARINGÁ   (Brazil)

^c PONTIFÍCIA UNIVERSIDADE CATÓLICA DE SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; CONNEXIN 30; GAP JUNCTION PROTEIN; GJB6 PROTEIN, HUMAN;

ARTICLE; BRAZIL; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HEARING; HEARING IMPAIRMENT; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; PREVALENCE; SINGLE STRAND CONFORMATION POLYMORPHISM; ALLELE; AMINO ACID SUBSTITUTION; COHORT ANALYSIS; GENETICS; GENOTYPE; HEARING LOSS; HETEROZYGOTE; HOSPITALIZATION; MUTATION; PATHOPHYSIOLOGY;

ALLELES; AMINO ACID SUBSTITUTION; BRAZIL; COHORT STUDIES; CONNEXINS; GENE FREQUENCY; GENETIC COUNSELING; GENOTYPE; HEARING LOSS; HETEROZYGOTE; HUMANS; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEVERITY OF ILLNESS INDEX;

EID: 64849085254     PISSN: 01960202     EISSN: None     Source Type: Journal    
DOI: 10.1097/AUD.0b013e31819144ad     Document Type: Article

References (42)

1. Abreu-Silva, R. S., Lezirovitz, K., Braga, M. C., et al. (2006). Prevalence of the A1555G (12S rRNA) and tRNA Ser(UCN) mitochondrial mutations in hearing-impaired Brazilian patients. Braz J Med Biol Res, 39, 219-226.
2. Bolz, H., Schade, G., Ehmer, S., et al. (2004). Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c. 35delG of GJB2 and teh 342-Kb deletion involving GJB6. Hear Res, 188, 42-46. (Pubitemid 38169239)
3. Braga, M. C. C., Otto, P. A., & Spinelli, M. (1999). Recurrence risks in cases of non-syndromic deafness. Braz J Dysmorph Speech Hear Dis, 2, 33-40.
4. Brobby, G. W., Muller-Myhsok, B., & Horstmann, R. D. (1998). Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N Engl J Med, 338, 548-550. (Pubitemid 28103143)
5. Common, J. E. A., Bitner-Glindzicz, M., O'Toole, E. A., et al. (2005). Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830). Clin Exp Dermatol, 30, 688-693. (Pubitemid 41499830)
6. Cryns, K., Orzan, E., Murgia, A., et al. (2004). A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J Med Genet, 41, 147-154. (Pubitemid 38337439)
7. Davis H., & Silverman S. R. (1970). Auditory test hearing aids. In H. Davis, & S. R. (Ed.), Silverman, hearing and deafness. TX: Holt rinehart and Winston.
8. Del Castillo, I., Moreno-Pelayo, M. A., Del Castillo, F. J., et al. (2003). 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, 73, 1452-1458. (Pubitemid 38037436)
9. Del Castillo, F. J., Rodríguez-Ballesteros, M., Alvarez, A., 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 Genetic, 42, 588-594. (Pubitemid 40993836)
10. Del Castillo, I., Villamar, M., Moreno-Pelayo, M. A., et al. (2002). A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med, 346, 243-249. (Pubitemid 34438863)
11. de Oliveira, C. A., Alexandrino, F., Christiani, T. V., et al. (2007). Molecular genetics study of deafness in Brazil: 8-year experience. Am J Med Genet A, 143, 1574-1579. (Pubitemid 47047781)
12. Denoyelle, F., Weil, D., Maw, M. A., et al. (1997). Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet, 6, 2173-2177. (Pubitemid 27477961)
13. Feldmann, D., Denoyelle, F., Chauvin, P., et al. (2004). Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis. Am J Med Genet A, 127, 263-267. (Pubitemid 38685867)
14. Gasparini, P., Rabionet, R., Barbujani, G., et al. (2000). High carrier frequency of the 35delG deafness mutation in European populations: genetic analysis consortium of GJB2 35delG. Eur J Hum Genet, 8, 19-23.
15. Gualandi, F., Ravani, A., Berto, A., et al. (2002). Exploring the clinical and epidemiological complexity of GJB2-linked deafness. Am J Med Genet, 112, 38-45. (Pubitemid 34940933)
16. Khan, S. Y., Riazzudin, S., Tariq, M., et al. (2006). Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. Hum Genet, 120, 789-793.
17. Kudo, T., Ikeda, K., Kure, S., et al. (2000). Novel mutations in the connexin 26 (GJB2) responsible for childhood deafness in the Japanese populations. Am J Med Genet, 90, 141-145. (Pubitemid 30030567)
18. Lezirovitz, K., Nicastro, F. S., Pardono, E., et al. (2006). Is autossomal recessive deafness associated to oculocutaneous albinism a "coincidence sydrome?" Hum Genet, 51, 716-720.
19. Liu, X. Z., Xia, X. J., Ke, X. M., et al. (2002). The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Hum Genet, 111, 394-397. (Pubitemid 36075066)
20. Marlin, S., Feldmann, D., Blons, et al. (2005). GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. Arch Otolaryngol Head Neck Surg, 131, 481-487. (Pubitemid 40989603)
21. Morell, R. J., Kim, H. J., Hood, L. J., et al. (1998). Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med, 339, 1500-1505. (Pubitemid 28543498)
22. Morton, N. E. (1991). Genetic epidemiology of hearing impairment. Ann N Y Acad Sci, 630, 16-31. Review.
23. Ohtsuka, I., Yuge, S., Kimura, A., et al. (2003). GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. Hum Genet, 112, 329-333.
24. Oliveira, C. A., Maciel-Guerra, A. T., Sartorato, E. L. (2002). Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients. Clin Genet, 61, 354-358. (Pubitemid 36372665)
25. Oliveira, C. A., Pimpinati, C. J., Alexandrino, F., et al. (2007). Allelic frequencies of the 35delG mutation of the GJB2 gene in different Brazilian regions. Genet Test, 11, 1-3. (Pubitemid 46557353)
26. Pallares-Ruiz, N., Blanchet, P., Mondain, M., et al. (2002). A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? Eur J Hum Genet, 10, 72-76. (Pubitemid 34229053)
27. Pandya, A., Arnos, K. S., Xia, X. J., et al. (2003). Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Med, 5, 295-303. (Pubitemid 36998687)
28. Park, H. J., Hahn, S. H., Chun, Y. M., et al. (2000). Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope, 110, 1535-1538. (Pubitemid 30691058)
29. Petersen, M. B., & Willems, P. J. (2006). Non-syndromic, autosomal recessive deafness. Clin Genet, 69, 371-392.
30. Petit, C. (2006). From deafness genes to hearing mechanisms: harmony and counterpoint. Trends Mol Med, 12, 57-64. (Pubitemid 43202123)
31. Petit, C., Levilliers, J., & Hardelin, J. P. (2001). Molecular genetics of hearing loss. Annu Rev Genet, 35, 589-646. Review.
32. Piatto, V. B., Bertollo, M. G. E., Sartorato, E. L., et al. (2004). Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness. Hear Res, 196, 87-93. (Pubitemid 39298899)
33. Ramensky, V., Bork, P., Sunyaev, S. (2002). Human non-synonymous SNPs: server and survey. Nucleic Acids Res, 30, 3894-3900. (Pubitemid 35012462)
34. Roux, A. F., Pallares-Ruiz, N., Vielle, A., et al. (2004). Molecular epidemiology of DFNB1 deafness in France. BMC Med Genet, 5, 5. (Pubitemid 38692985)
35. Samanich, J., Lowes, C., Burk, R., et al. (2007). Mutations in GJB2, GJB6, and mitochondrial DNA are rare African American and Caribbean Hispanic individuals with hearing impairment. Am J Med Genet, 143, 830-838. (Pubitemid 46556169)
36. Santos, R. L., Aulchenko, Y. S., Huygen, P. L., et al. (2005). Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations. Int J Pediatr Otorhinolaryngol, 69, 165-174. (Pubitemid 40126743)
37. Scott, D. A., Kraft, M. L., Carmi, R., et al. (1998). Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum Mutat, 11, 387-394. (Pubitemid 28196639)
38. 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 the GJB2. Clin Genet, 69, 410-413.
39. Shahin, H., Walsh, T., Sobe, T., et al. (2002). Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East. Hum Genet, 110, 284-289. (Pubitemid 36067450)
40. Snoeckx, R. L., Hassan, D. M., Kamal, N. M., et al. (2005). Mutation analysis of the GJB2 (connexin 26) gene in Egypt. Hum Mutat, 26, 60-61.
41. Wilch, E., Zhu, M., Burkhart, K. B., et al. (2006a). Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele. Am J Hum Genet, 79, 174-179. (Pubitemid 43927390)
42. Wilch, E., Zhu, M., Burkhart, K. B., et al. (2006b). Low expression of GJB2 and GJB6 segregates with DFNB1 deafness and with a distant 131kb deletion in an extended Michigan family. Hereditary Hearing Impairment Consortium. The American Society of Human Genetics.