Brai nstem Evoked Response Audiometry (BERA) is an objective and non-invasive method of hearing assessment which detects electrical activity from the inner ear to the inferior colliculus. Aim: To assess the hearing pathway in normal hearing individuals and compare differences associated with gender, age and ear side (left and right). Study Design: A retrospective study. Materials and Methods: Sixty normal hearing individuals, aged between 09 and 66 years old, were subjected to clinical ENT examination and audiologic tests. Results: Wave latencies differed significantly between males and females, although there were no differences regarding right or left ear sides. Comparing latency averages regarding age and gender we noticed important differences. By the same token, significant differences were also seen comparing this study with the information present in the handbook of the BERA device used and results published by Fukuda, in another study. Conclusion: Knowing the great importance of BERA, it is crucial that each service develops its own standards in order to enhance the accuracy of the electrophysiological diagnosis of the hearing pathway.

Mutations in the GJB2 gene, mainly 35delG, are responsible for most autosomal recessive inherited genetic hearing loss. The audiometric standard of these hearing losses remains inconsistent and other genes, such as GJB6, have been involved in association with GJB2. The objective of the study was to identify the deletions del(GJB6-D13S1830) and del(GJB6-D13S1854) in patients heterozygous for 35delG/GJB2 and analyze the phenotype they present. 101 patients with mild to profound degree of sensorineural hypoacusis were evaluated. The allele-specific PCR technique was used to identify 35delG. The del(GJB6-D13S1830) and del(GJB6-D13S1854) were identified through the PCR multiplex technique. 90% of the subjects presented a normal genotype for the analyzed mutations; 6.93% were shown to be heterozygous for 35delG/GJB2 and 1% presented compound heterozygosis GJB2/GJB6). The data found reinforced the hypothesis of an interaction of more than one gene as the cause of autosomal recessive genetic hearing loss and emphasized the importance of an early diagnosis for appropriate intervention.

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