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

G.N. Manzoli; K. Abé-Sandes; A.H. Bittles; D.S.D. da Silva; L. da C. Fernandes; R.M.C. Paulon; I.C.S. de Castro; C.M.C.A. Padovani; A.X. Acosta

doi:10.1016/j.ijporl.2013.04.001

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

Journal article

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

G.N. Manzoli, K. Abé-Sandes, A.H. Bittles, D.S.D. da Silva, L. da C. Fernandes, R.M.C. Paulon, I.C.S. de Castro, C.M.C.A. Padovani and A.X. Acosta

International Journal of Pediatric Otorhinolaryngology, Vol.77(7), pp.1077-1082

2013

DOI: https://doi.org/10.1016/j.ijporl.2013.04.001

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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.

Details

Title: Non-syndromic hearing impairment in a multi-ethnic population of Northeastern Brazil
Authors/Creators: G.N. Manzoli (Author/Creator) - Fundação Oswaldo Cruz
K. Abé-Sandes (Author/Creator) - Fundação Oswaldo Cruz
A.H. Bittles (Author/Creator) - Murdoch University
D.S.D. da Silva (Author/Creator)
L. da C. Fernandes (Author/Creator)
R.M.C. Paulon (Author/Creator) - Fundação Oswaldo Cruz
I.C.S. de Castro (Author/Creator) - Universidade Federal da Bahia
C.M.C.A. Padovani (Author/Creator) - Bahia State University
A.X. Acosta (Author/Creator) - Fundação Oswaldo Cruz
Publication Details: International Journal of Pediatric Otorhinolaryngology, Vol.77(7), pp.1077-1082
Publisher: Elsevier
Identifiers: 991005543077607891
Copyright: © 2013 Elsevier Ireland Ltd.
Murdoch Affiliation: Centre for Comparative Genomics
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.239 Tissue Barriers; 1.239.1384 Gap Junction
Web Of Science research areas: Otorhinolaryngology; Pediatrics
ESI research areas: Clinical Medicine