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

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

Abstract

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.

Item Type:	Journal Article
Murdoch Affiliation(s):	Centre for Comparative Genomics
Publisher:	Elsevier
Copyright:	© 2013 Elsevier Ireland Ltd.
URI:	http://researchrepository.murdoch.edu.au/id/eprint/16297

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