Molecular study of hearing loss in Minas Gerais, Brazil

• Autor(a) principal: Schüffner,Raíssa de Oliveira Aquino
• Data de Publicação: 2020
• Outros Autores: Nascimento,Karla Lima, Dias,Fábio André, Silva,Pedro Henrique Teodoro da, Pires,Wrgelles Godinho Bordone, Cipriano Junior,Nilson Moreira, Santos,Luciana Lara dos
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Brazilian Journal of Otorhinolaryngology
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1808-86942020000300327
• topic: Hearing loss; GJB2; GJB6; Brazil

Abstract Introduction: Deafness is the most frequent sensory deficit in humans. Incidence is estimated at 4:1000 births in Brazil. Specific programs for clinical care of patients with hearing loss are still scarce in Brazil and the issue is an important public health problem. Objective: To determine the frequency of 35delG and D13S1830 mutations in GJB2 and GJB6 genes respectively in patients with non-syndromic sensorineural hearing loss from Minas Gerais, Brazil. Methods: This research involved 53 individuals, who were assessed by a questionnaire for predicting the possibility of non-syndromic deafness and for data collecting. Samples were tested for the presence of the 35delG mutation in GJB2 gene and D13S1830 in GJB6 gene by polymerase chain reaction and restriction enzyme digestion. Results: Epidemiological research has shown that the majority of the subjects are unaware of the etiology and the pathogenesis of hearing loss. In 9 patients (16.98%), 35delG mutation was found in heterozygosis and the allele frequency was estimate to be around 8.5%. Although 9.61% of the patients reported having some degree of consanguinity between the parents and 12.08% reported other cases of deafness in their families, this mutation was not found in homozygosis. The D13S1830 mutation was not found in this study. Conclusion: This research describes for the first time the frequency of the 35delG and D13S1830 mutation in hearing-impaired individuals from Minas Gerais, Brazil, and the collected data reinforce the need for further studies in this population due to heterogeneity of hearing loss.