Etiologic and diagnostic evaluation: Algorithm for severe to profound sensorineural hearing loss in Brazil

References

• ACMG. 2002. Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss. Genetic evaluation of congenital hearing loss expert panel. ACMG statement. Genet Med, 4, 162–171.
   PubMed Web of Science ®Google Scholar
• Calháu C.M.D.F., Lima-Júnior L.R.P., Reis A.M.C.S., Capistrano A.K.B., Lima D.V.S.P. et al. 2011. Etiology profile of the patients implanted in the cochlear implant program. Braz J Otorhinolaryngol, 77, 13–18.
   PubMed Web of Science ®Google Scholar
• De Keulenaer S., Hellemans J., Lefever S., Renard J.P., De Schrijver J. et al. 2012. Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform. BMC Med Genomics, 5, 1–20.
   PubMed Web of Science ®Google Scholar
• De 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 A, 143A, 1574–1579.
   PubMed Web of Science ®Google Scholar
• Del Castillo F.J., Rodríguez-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, 588–594.
   PubMed Web of Science ®Google Scholar
• Del Castillo I., Moreno-Pelayo M.A., Del Castillo F.J., Brownstein Z., Marlin S. 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.
   PubMed Web of Science ®Google Scholar
• Denoyelle F., Weil D., Maw M.A., Wilcox S.A., Lench N.J. et al. 1997. Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet, 6, 2173–2177.
   PubMed Web of Science ®Google Scholar
• Dossena S., Bizhanova A., Nofziger C., Bernardinelli E., Ramsauer J. et al. 2011. Identification of allelic variants of pendrin (PDS) with loss and gain of function. Cell Physiol Biochem, 28, 467–476.
   PubMedGoogle Scholar
• Dror A.A. & Avraham K.B. 2009. Hearing loss: Mechanisms revealed by genetics and cell biology. Annu Rev Genet, 43, 411–437.
   PubMed Web of Science ®Google Scholar
• Everett L.A., Glaser B., Beck J.C., Idol J.R., Buchs A. et al. 1997. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet, 17, 411–422.
   PubMed Web of Science ®Google Scholar
• Finsterer J. & Fellinger J. 2005. Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing. Int J Pediatr Otorhinolaryngol, 69, 621–649.
   PubMed Web of Science ®Google Scholar
• Gasparini P., Rabionet R., Barbujani G., Melçhionda S., Petersen M. 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.
   PubMed Web of Science ®Google Scholar
• Green G.E., Scott D.A., McDonald J.M., Woodworth G.G., Sheffield V.C. et al. 1999. Carrier rates in the mid-western United States for GJB2 mutations causing inherited deafness. JAMA, 281, 2211–2216.
   PubMed Web of Science ®Google Scholar
• Hilgert N., Smith R.J.H. & Van Camp G. 2009. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analysed in DNA diagnostics?Mutat Res, 681, 189–196.
   PubMed Web of Science ®Google Scholar
• Kelsell D.P., Dunlop J., Stevens H.P., Lench N.J., Liang J.N. et al. 1997. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature, 387, 80–83.
   PubMed Web of Science ®Google Scholar
• King P.J., Ouyang X., Du L., Yan D., Angeli S.I. et al. 2012. Etiologic diagnosis of nonsyndromic genetic hearing loss in adult vs. pediatric populations. Otolaryngol Head Neck Surg, 147, 932–936.
   PubMed Web of Science ®Google Scholar
• Lewis D.R., Marone S.A.M., Mendes B.C.A., Cruz O.L.M., Nobrega M. 2010. Multiprofessional committee on auditory health: COMUSA. Braz J Otorhinlolaryngol, 76, 121–128.
   PubMed Web of Science ®Google Scholar
• Mafong D.D., Shin E.J. & Lalwani A.K. 2002. Use of laboratory evaluation and radiologic imaging in the diagnostic evaluation of children with sensorineural hearing loss. Laryngoscope, 112, 1–7.
   PubMed Web of Science ®Google Scholar
• Manta F.S., Pereira R., Caiafa A., Silva D.A., Gusmão L. et al. 2013. Analysis of genetic ancestry in the admixed Brazilian population from Rio de Janeiro using 46 autosomal ancestry-informative indel markers. Ann Hum Biol, 40, 94–98.
   PubMed Web of Science ®Google Scholar
• Mingroni-Netto R.C., Abreu-Silva R.S., Braga M.C.C., Lezirovitz K., Della-Rosa V.A. et al. 2001. Mitochondrial mutation A1555G (12S rRNA) and connexin 26 35delG mutation are frequent causes of deafness in Brazil. Am J Hum Genet, 69, suppl. A2124.
   Web of Science ®Google Scholar
• Morzaria S., Westerberg B.D. & Kozak F.K. 2005. Evidence-based algorithm for the evaluation of a child with bilateral sensorineural hearing loss. J Otolaryngol, 34, 297–303.
   PubMedGoogle Scholar
• Nance W.E. 2003. The genetics of deafness. Ment Retard Dev Disabil, 9, 109–119.
   PubMedGoogle Scholar
• Nivoloni K.A.B., da Silva-Costa S.M., Pomílio M.C.A., Pereira T., Lopes K.C. et al. 2010. Newborn hearing screening and genetic testing in 8974 Brazilian neonates. Int J Pediatr Otorhinolaryngol, 74, 926–929.
   Google Scholar
• Nobrega M., Weckx L.L. & Juliano Y. 2005. Study of the hearing loss in children and adolescents, comparing the periods of 1990–1994 and 1994–2000. Int J Pediatr Otorhinolaryngol, 69, 829–838.
   PubMed Web of Science ®Google Scholar
• Parra F.C., Amado R.C., Lambertucci J.R., Rocha J., Antunes C.M. et al. 2003. Color and genomic ancestry in Brazil. Proc Natl Acad Sci USA, 100, 177–182.
   PubMed Web of Science ®Google Scholar
• Preciado D.A., Lawson L., Madden C., Myer D., Ngo C. et al. 2004. A diagnostic paradigm for childhood idiopathic sensorineural hearing loss. Otolaryngol Head Neck Surg, 131, 804–809.
   PubMed Web of Science ®Google Scholar
• Preciado D.A., Lawson L., Madden C., Myer D., Ngo C. et al. 2005. Improved diagnostic effectiveness with a sequential diagnostic paradigm in idiopathic pediatric sensorineural hearing loss. Otol Neurotol, 26, 610–615.
   PubMed Web of Science ®Google Scholar
• Prezant T.R., Agapian J.V., Bohlman M.C., Bu X. & Öztas S. 1993. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet, 4, 289–294.
   Google Scholar
• Pupo A.C., Balieiro C.R., Figueiredo R.S.L. 2008a. Retrospective study of hearing-impaired children and teenagers: Characterizing the etiologies and audiological aspects. Rev CEFAC, 10, 84–91.
   Google Scholar
• Pupo A.C., Pirana S., Spinelli M., Lezirovitz K., Mingroni-Netto R.C. et al. 2008b. Study of a Brazilian family presenting non-syndromic hearing loss with mitochondrial inheritance. Braz J Otorhinolaryngol, 74, 786–789.
   PubMedGoogle Scholar
• Russo I.C.P. 2000. Overview of audiology in Brazil: State of the art. Audiology, 39, 202–206.
   Google Scholar
• Scott D.A., Kraft M.L., Carmi R., Ramesh A., Elbedour K. et al. 1998. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum Mutat, 11, 387–394.
   PubMed Web of Science ®Google Scholar
• Silman S. & Silverman C.A. 1997. Basic Audiologic Testing. In: S. Silman & C.A. Silverman (eds.), Auditory Diagnosis: Principles and Applications: Second edition. San Diego: Singular Publishing Group, pp. 44–52.
   Google Scholar
• Smith R.J.H., Shearer A.E., Hilderbrand M.S. & Van Camp G. 1993. Deafness and hereditary hearing loss overview. In: R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens, M.P. Adam (eds.), Gene Reviews [internet]. Seattle, USA: University of Washington [updated 2012 Jan 05].
   Google Scholar
• Snoeckx R.L., Huygen P.L., Feldmann D., Marlin S., Denoyelle F. et al. 2005. GJB2 mutations and degree of hearing loss: A multicenter study. Am J Hum Genet, 77, 945–957.
   PubMed Web of Science ®Google Scholar
• Wu C.C., Lee Y.C., Chen P.J. & Hsu C.J. 2008. Predominance of genetic diagnosis and imaging results as predictors in determining the speech perception performance outcome after cochlear implantation in children. Arch Pediatr Adolesc Med, 162, 269–276.
   PubMed Web of Science ®Google Scholar
• Walch C., Anderhuber W., Köle W. & Berghold A. 2000. Bilateral sensorineural hearing disorders in children: Etiology of deafness and evaluation of hearing tests. Int J Pediatr Otorhinolaryngol, 53, 31–38.
   PubMed Web of Science ®Google Scholar
• Zelante L., Gasparini P., Estivill X., Melchionda S., D’Agruma L. et al. 1997. Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet, 6, 1605–1609.
   PubMed Web of Science ®Google Scholar