Interaction between audiology and genetics in the study of a family: the complexity of molecular diagnosis and genetic counseling

Revista Brasileira de Otorrinolaringologia

FAPESP¹  Santos, Teresa Maria Momensohn dos¹  Matas, Carla Gentile¹  Instituto de Estudos da Audição¹  Instituto de Estudos Avançados da Audição, Brasil¹  Universidade Estadual de Campinas, Brasil¹  Sartorato, Edi Lucia¹  de Moraes, Vanessa Cristine Sousa¹  Universidade Federal de São Paulo, Brasil¹  USP¹  Rodrigues, Patrícia Fernandes¹  Maciel-Guerra, Andréa Trevas¹  Hoffmann, Flavia Maria Rodrigues¹ 

关键词: counseling;    hearing loss;    genetics;    mutation.;   

DOI  :  10.1590/S0034-72992008000500010

学科分类：医学（综合）

来源: Associacao Brasileira de Otorrinolaringologia e Cirurgia Cervicofacial

【 摘 要 】

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.

【 授权许可】

Unknown