International Journal of Pediatric Otorhinolaryngology
Volume 74, Issue 8 , Pages 926-929 , August 2010

Newborn hearing screening and genetic testing in 8974 Brazilian neonates

  • Karin de A.B. Nivoloni

      Affiliations

    • Associação Terapêutica de Estimulação Auditiva e Linguagem—ATEAL, Av. Antonio Frederico Ozanan, 6561, Jundiai SP 13201-125, Brazil
    • www.ateal.org.br.
  • ,
  • Sueli M. da Silva-Costa

      Affiliations

    • Center of Molecular Biology and Genetic Engineering (CBMEG), Human Molecular Genetics Laboratory, State University of Campinas—UNICAMP, Brazil Cidade Universitária Zeferino Vaz s/n, Barão Geraldo, Campinas SP 13083-970, Brazil
  • ,
  • Mariza C.A. Pomílio

      Affiliations

    • Associação Terapêutica de Estimulação Auditiva e Linguagem—ATEAL, Av. Antonio Frederico Ozanan, 6561, Jundiai SP 13201-125, Brazil
    • www.ateal.org.br.
  • ,
  • Tânia Pereira

      Affiliations

    • Associação Terapêutica de Estimulação Auditiva e Linguagem—ATEAL, Av. Antonio Frederico Ozanan, 6561, Jundiai SP 13201-125, Brazil
    • www.ateal.org.br.
  • ,
  • Karen de C. Lopes

      Affiliations

    • Associação Terapêutica de Estimulação Auditiva e Linguagem—ATEAL, Av. Antonio Frederico Ozanan, 6561, Jundiai SP 13201-125, Brazil
    • www.ateal.org.br.
  • ,
  • Vanessa C.S. de Moraes

      Affiliations

    • Center of Molecular Biology and Genetic Engineering (CBMEG), Human Molecular Genetics Laboratory, State University of Campinas—UNICAMP, Brazil Cidade Universitária Zeferino Vaz s/n, Barão Geraldo, Campinas SP 13083-970, Brazil
  • ,
  • Fabiana Alexandrino

      Affiliations

    • Center of Molecular Biology and Genetic Engineering (CBMEG), Human Molecular Genetics Laboratory, State University of Campinas—UNICAMP, Brazil Cidade Universitária Zeferino Vaz s/n, Barão Geraldo, Campinas SP 13083-970, Brazil
  • ,
  • Camila A. de Oliveira

      Affiliations

    • Center of Molecular Biology and Genetic Engineering (CBMEG), Human Molecular Genetics Laboratory, State University of Campinas—UNICAMP, Brazil Cidade Universitária Zeferino Vaz s/n, Barão Geraldo, Campinas SP 13083-970, Brazil
  • ,
  • Edi L. Sartorato

      Affiliations

    • Center of Molecular Biology and Genetic Engineering (CBMEG), Human Molecular Genetics Laboratory, State University of Campinas—UNICAMP, Brazil Cidade Universitária Zeferino Vaz s/n, Barão Geraldo, Campinas SP 13083-970, Brazil
    • Corresponding Author InformationCorresponding author. Tel.: +55 19 3521 1147; fax: +55 19 3521 1089.

Received 14 April 2010 ,Accepted 9 May 2010.

References 

  1. de Nobrega M, Weckx LL, Juliano Y. Study of the hearing loss in children and adolescents, comparing the periods of 1990–1994 and 1994–2000. Int. J. Pediatr. Otorhinolaryngol. 2005;69(6):829–838
  2. Year 2007 Position Statement: Principles and Guidelines for Early Hearing Detection and Intervention Programs Joint Committee on Infant Hearing. Pediatrics. 2007;120(October (4)):898–921http://www.jcih.org/posstatemts.htm. Accessed 12/06/2008
  3. Simões AM, Maciel-Guerra AT. A surdez evitável: predominância de fatores ambientais na etiologia da surdez neurossensorial profunda. J. Pediatr. 1992;68:254–257
  4. Kelsell DP, Dulop J, Stevens HP, Lench NJ, Liang JN, Parry G, et al. Connexin 26 mutations in hereditary nonsyndromic sensorineural deafness. Nature. 1997;378:80–83
  5. Gasparini P, Rabionet R, Barbujani G, Melçhionda S, Petersen M, Brøndum-Nielsen K, et al. High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur. J. Hum. Genet. 2000;8(1):19–23
  6. Sartorato EL, Gottardi E, Oliveira CA, Magna LA, Annichino-Bizzacchi JM, Seixas CA, et al. Determination of the frequency of 35delG allele in Brazilian neonates. Clin. Genet. 2000;58(1):339–340
  7. Oliveira CA, Maciel-Guerra AT, Sartorato EL. Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients. Clin. Genet. 2002;61:354–358
  8. Oliveira CA, Alexandrino F, Abe-Sandes K, Silva WA, Maciel-Guera AT, Magna LA, et al. Frequency of 35delG mutation in the GJB2 gene in samples of European, Asian and African Brazilians. Hum. Biol. 2004;76(2):313–316
  9. Oliveira CA, Alexandrino F, Christiani V, Steiner CE, Cunha JL, Guerra AT, et al. Molecular genetics study of deafness in Brazil: 8-year experience. Am. J. Med. Genet. A. 2007;143(14):1574–1579
  10. Fischel-Ghodsian N. Mitochondrial deafness mutations reviewed. Hum. Mut. 1999;13:261–270
  11. Hutchin T, Haworth I, Higashi K, Fischel-Ghodsian N, Stoneking M, Saha N, et al. A molecular basis for human hypersensitivity to aminoglycoside antibiotics. Nucleic Acids Res. 1993;21:4174–4179
  12. Estivill X, Govea N, Barcelo A, Perello E, Badenas C, Romero E, et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides. Am. J. Hum. Genet. 1998;62:27–35
  13. Li R, Xing G, Yan M, Cao X, Liu XZ, Bu X, et al. Cosegregation of C-insertion at position 961 with A1555G mutation of mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss. Am. J. Med. Genet. A. 2004;124:113–117
  14. Sande MA, Mandell GL. The Pharmacological Basis of Therapeutics. 8th edn.. New York: Pergamon Press; 1990;pp. 1098–1116
  15. Casano RAMS, Bykhovskaya Y, Johnson DF, Torricelli F, Bigozzi M, Fischel-Ghodsian N. Hearing loss due to the mitochondrial A1555G mutation in Italian families. Am. J. Med. Genet. 1998;79:388–391
  16. Prezant TR, Agapian JV, Bohlman MC, Bu X, Oztas S, Qiu WQ, et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat. Genet. 1993;4:289–294
  17. Xing G, Chen Z, Wei Q, Tian H, Li X, Zhou A, et al. Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family. Biochem. Biophys. Res. Commun. 2006;344:1253–1257
  18. Xing G, Chen Z, Wei Q, Tian H, Li X, Zhou A, et al. Mitochondrial 12S rRNA A827G mutation is involved in the genetic susceptibility to aminoglycoside ototoxicity. Biochem. Biophys. Res. Commun. 2006;346:1131–1135
  19. 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(4):792–799
  20. Friedman R, Bykhovskaya Y, Sue C, Dimauro S, Bradley R, Fallis-Cunningham R, et al. Maternally inherited nonsyndromic hearing loss. Am. J. Med. Genet. 1999;84:369–372
  21. Iwasaki S, Tamagawa Y, Ocho S, Hoshino T. Hereditary sensorineural hearing loss of unknown cause involving mitochondrial DNA A1555G mutation, ORL. J. Otorhinolaryngol. Relat. Spec. 2000;62:100–103
  22. Wilcox SA, Saunders K, Osborn AH, Arnold A, et al. High frequency hearing loss correlated with mutations in the GJB2 gene. Hum. Genet. 2000;106:399–405
  23. Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, Brownstein Z, Marlin S, Adina Q, et al. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing impairment subjects: a multicenter study. Am. Hum. Genet. 2003;73(6):1452–1458
  24. de Moraes VC, Alexandrino F, Andrade PB, Camara MF, Sartorato EL. Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment. Biochem. Biophys. Res. Commun. 2009;381(2):210–213
  25. Guan MX, Fischel-Ghodsian N, Attardi G. Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation. Hum. Mol. Genet. 2001;10:573–580

PII: S0165-5876(10)00225-9

doi: 10.1016/j.ijporl.2010.05.015

International Journal of Pediatric Otorhinolaryngology
Volume 74, Issue 8 , Pages 926-929 , August 2010