Prevalence of 35delG and Met34Thr GJB2 variants in Portuguese samples

• Autor(a) principal: Dória, M
• Data de Publicação: 2015
• Outros Autores: Neto, AP, Santos, AC, Barros, H, Fernandes, S, Moura, CP
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10216/114699
• topic: GJB2 gene; 35delG variant; Met34Thr variant; Hearing-loss

Objective: To estimate the prevalence of 35delG and Met34Thr variants in a Portuguese children's community sample and to compare these frequencies with nonsyndromic hearing-loss patients. Methods: 502 children were randomly selected among the 8647 participants of the Portuguese birth cohort Generation XXI, and screened for Met34Thr and 35delG variants in the GJB2 gene. These variants were also studied on 89 index-cases, observed in the Clinic of “Hereditary Hearing-loss” in Saint John's Hospital Center, presenting a mild to profound nonsyndromic hearing-loss. Results: Among the 502 children from Generation XXI, 10 were heterozygous for the 35delG variant (95% Confidence Interval 1.03–3.68) and 1 homozygous (95% Confidence Interval 0.01–1.24). Other 10 children presented heterozygosity for the Met34Thr variant (95% Confidence Interval 1.03–3.68). No homozygous for the Met34Thr or compound heterozygotes (35delG/Met34Thr) were found. In the total of 89 nonsyndromic hearing-loss patients, 5 (95% Confidence Interval 2.11–12.8) were heterozygous and 7 (95% Confidence Interval 3.61–15.6) were homozygous for the 35delG variant. The Met34Thr variant was found in 4 patients, 2 heterozygous (95% Confidence Interval 0.13–8.31) and 2 homozygous (95% Confidence Interval 0.13–8.31). Conclusion: The carrier frequency of 35delG and Met34Thr variants in a Portuguese sample was 1 in 50. Our data suggests that the 35delG mutation has an association with deafness. For the Met34Thr variant, no association was observed. However, Met34Thr seemed to conform to an additive model in hearing-loss.