Interaction Between Audiology And Genetics In The Study Of A Family: The Complexity Of Molecular Diagnosis And Genetic Counseling [interação Entre Audiologia E Genética No Estudo De Uma Família: A Complexidade Do Diagnóstico Molecular E Do Aconselhamento Genético]

Abstract

Hearing loss is a multifaceted condition with many etiologies, among which genetic mutation is. Therefore, it is important to connect audiological investigation to etiological diagnosis. Aim: this study aims to establish the audiological and genetic profiles of three non-syndromic children with sensorineural hearing loss. Materials and method: three brothers aged 3, 5 and 16 were enrolled in this study. They were submitted to behavioral and electrophysiological hearing tests and molecular studies. Results: the hearing tests showed moderate to moderately severe bilateral symmetric sensorineural hearing loss and an accentuated descending slope. Transient and Distortion Product Otoacoustic emissions were absent in the two younger children. ABR showed a bilateral moderately severe to severe sensorineural hearing loss. P300 showed bilateral normal latencies in the older brother. Molecular tests showed that the two younger children were heterozygote for mutation 35delG on gene GJB2. Conclusion: The combination of speech and hearing tests and genetic analysis allows for the etiologic diagnosis of seemingly similar hearing loss cases, which however display different genetic backgrounds. Molecular studies must be comprehensive enough to avoid precipitated diagnosis which may impair genetic counseling. © Revista Brasileira de Otorrinolaringologia. All Rights reserved.745698702Godinho R, Keogh I, Eavey R. Perda Auditiva Genética. Rev. Bras. Otorrinolaringol. [online]. Jan./Fev. 2003, 69, no. 1 [cited 06 Novembro 2005], p. 100-104. Available from World Wide Web: http://www.rborl.org.br/ conteudo/acervo/print-acervo.asp?id=35. ISSN 1806-9312Azevedo MF. Avaliação audiológica no primeiro ano de vida. In: Lopes Filho, OC (org.). Tratado de Fonoaudiologia. São Paulo, Editora Roca Ltda.1997, cap. 11 p.239-63Russo, I.C.P., Santos, T.M.M., A Prática da Audiologia Clínica (2005) São Paulo: Cortez editoraGranato L, Pinto CF, Ribeiro MQ. Perda Auditiva de Origem Genética. 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