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.
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.
Authors: Uirá S Melo; Silvana Santos; Hannalice G Cavalcanti; Wagner T Andrade; Vitor G Dantas; Marine Rd Rosa; Regina C Mingroni-Netto Journal: Int J Mol Epidemiol Genet Date: 2014-02-17
Authors: Gabrielle N Manzoli; Guney Bademci; Angelina X Acosta; Têmis M Félix; F Basak Cengiz; Joseph Foster; Danniel S Dias Da Silva; Ibis Menendez; Isalis Sanchez-Pena; Demet Tekin; Susan H Blanton; Kiyoko Abe-Sandes; Xue Zhong Liu; Mustafa Tekin Journal: Ann Hum Genet Date: 2016-11 Impact factor: 1.670
Authors: Simone da Costa E Silva Carvalho; Carlos Henrique Paiva Grangeiro; Clarissa Gondim Picanço-Albuquerque; Thaís Oliveira Dos Anjos; Greice Andreotti De Molfetta; Wilson Araujo Silva; Victor Evangelista de Faria Ferraz Journal: BMC Res Notes Date: 2018-08-02
Authors: Raíssa de Oliveira Aquino Schüffner; Karla Lima Nascimento; Fábio André Dias; Pedro Henrique Teodoro da Silva; Wrgelles Godinho Bordone Pires; Nilson Moreira Cipriano; Luciana Lara Dos Santos Journal: Braz J Otorhinolaryngol Date: 2019-02-20