A study of GJB2 and delGJB6-D13S1830 mutations in Brazilian non-syndromic deaf children from the Amazon region

Luciana Santos Serrão de Castro Anderson Nonato do Rosario Marinho Elzemar Martins Ribeiro Rodrigues Giorgio Christie Tavares Marques Tarcísio André Amorim de Carvalho Luiz Carlos Santana da Silva Sidney Emanuel Batista dos Santos About the authors

Hearing impairment affects about 1 in 1000 newborns. Mutations in the connexin 26 (GJB2) gene rank among the most frequent causes of non-syndromic deafness in different populations, while delGJB6-D13S1830 mutation located in the DFNB30 locus is known to cause sensorineural hearing loss. Despite the many studies on the involvement of GJB2 mutations in hearing impairment in different populations, there is little information on genetic deafness in Brazil, especially in the Amazon region. OBJECTIVE: To determine the prevalence of GJB2 mutations and delGJB6-D13S1830 in 77 sporadic non-syndromic deaf patients. METHOD: The coding region of the GJB2 gene was sequenced and polymerase chain reaction was performed to detect the delGJB6-D13S1830 mutation. RESULTS: Mutant allele 35delG was found in 9% of the patients (7/77). Mutations M34T and V95M were detected in two distinct heterozygous patients. Non-pathogenic mutation V27I was detected in 28.6% of the patients (22/77). None of the deaf patients carried the delGJB6-D13S1830 mutation. CONCLUSION: Mutant alleles on gene GJB2 were observed in 40% (31/77) of the subjects in the sample. Pathogenic variants were detected in only 12% (9/77) of the individuals. More studies are required to elucidate the genetic causes of hearing loss in miscegenated populations.

connexins; deafness; genetic counseling


Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Sede da Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico Facial, Av. Indianópolia, 1287, 04063-002 São Paulo/SP Brasil, Tel.: (0xx11) 5053-7500, Fax: (0xx11) 5053-7512 - São Paulo - SP - Brazil
E-mail: revista@aborlccf.org.br