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

• Published in: Brazilian journal of otorhinolaryngology Vol. 74; no. 5; pp. 698 - 702
• Main Authors: Hoffmann, Flavia Maria Rodrigues, Rodrigues, Patrícia Fernandes, dos Santos, Teresa Maria Momensohn, Sartorato, Edi Lucia, Maciel-Guerra, Andréa Trevas, Matas, Carla Gentile, de Moraes, Vanessa Cristine Sousa
• Format: Journal Article
• Language: English
• Published: Brazil Elsevier Editora Ltda 01.09.2008; Elsevier
• Subjects: Adolescent; Audiology; Child, Preschool; Connexin 26; Connexins - genetics; counseling; Genetic Counseling; genetics; hearing loss; Hearing Loss, Sensorineural - diagnosis; Hearing Loss, Sensorineural - genetics; Hearing Tests; Heterozygote; Humans; Male; Mutation; Original; Otoacoustic Emissions, Spontaneous; Pedigree; Phenotype; Speech Discrimination Tests; mutation; genetics; hearing loss; counseling
• ISSN: 1808-8694; 1808-8686
• DOI: 10.1016/S1808-8694(15)31379-3

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. this study aims to establish the audiological and genetic profiles of three non-syndromic children with sensorineural hearing loss. three brothers aged 3, 5 and 16 were enrolled in this study. They were submitted to behavioral and electrophysiological hearing tests and molecular studies. 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. 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.