Non-syndromic hearing impairment in a multi-ethnic population of Northeastern Brazil

Document Type

Journal Article




Faculty of Health, Engineering and Science


School of Medical Sciences / Systems and Intervention Research Centre for Health




Manzoli, G., Abe-Sandes, K., Bittles, A. H., da Silva, D., Fernandes, L., Paulon, R., de Castro, I., Padovani, C., & Acosta, A. (2013). Non-syndromic hearing impairment in a multi-ethnic population of Northeastern Brazil. International Journal of Pediatric Otorhinolaryngology, 77(7), 1077-1082. Available here


Objective: There are many hearing impaired individuals in Monte Santo, a rural municipality in the state of Bahia, Brazil, including multiple familial cases strongly suggestive of a genetic aetiology. Methods: The present study investigated 81 subjects with hearing impairment (HI) recruited from 36 families. Mutations often associated with HI, i.e. the DFNB1 mutations c.35delG in GJB2, deletions del(. GJB6-D13S1830) and del(. GJB6-D13S1854), and A1555G in the mitochondrial gene MTRNR1 were initially analyzed, with additional mutations in GJB2 identified by sequencing the coding region of the gene. Results: Seven different mutations were present in GJB2 with mutations c.35delG and p.Arg75Gln, which are known to be pathogenic, identified in 37.0% of the subjects. Individuals homozygous for the c.35delG mutation were diagnosed in eight families, corresponding to 24.7% of unrelated individuals with nonsyndromic hearing impairment (NSHI), and an additional heterozygote for this mutation was present in a single family. Ten individuals (12.4%) in another family were heterozygous for the mutation p.Arg75Gln. Conclusions: Significant heterogeneity was observed in the alleles and patterns of NSHI inheritance among the subjects studied, probably due to the extensive inter-ethnic admixture that characterizes the peoples of Brazil, together with a high prevalence of community endogamy and consanguineous marriage.