Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/197332
Type: Artigo de periódico
Title: Molecular Genetics Study Of Deafness In Brazil: 8-year Experience.
Author: de Oliveira, Camila Andréa
Alexandrino, Fabiana
Christiani, Thalita Vitachi
Steiner, Carlos Eduardo
Cunha, José Luiz Rosemberis
Guerra, Andréa Trevas Maciel
Sartorato, Edi Lúcia
Abstract: Hereditary hearing loss is a complex disorder that involves a large number of genes. In developed countries, 1 in 1,000 children is born with deafness severe enough to require special education services, and about 60% of the cases of isolated deafness have a genetic origin. Although more than 100 genes for hearing loss are known currently, only a few are routinely tested in the clinical practice. In this study, we present our findings from the molecular diagnostic screening of the GJB2 and GJB3 genes, del(GJB6-D13S1,830) and del(GJB6-D13S1,854) deletions in the GJB6 gene, Q829X mutation in the otoferlin gene (OTOF) and, the A1,555G and A7,445G mutations in the mitochondrial genome over an 8-year period. Mutations analysis in the previously mentioned genes and mutations was performed on 645 unrelated Brazilian patients with hearing loss who fell into two different testing groups. Different mutations in the GJB2 gene were responsible for most of cases studied, but deletions in the GJB6 gene as well as mitochondrial mutations were also found. While most cases of hearing loss in this country are due to environmental factors, the genetic etiology of deafness will increasingly be determined as more genetic tests become available.
Subject: Adolescent
Adult
Brazil
Child
Child, Preschool
Connexins
Dna Mutational Analysis
Dna, Mitochondrial
Deafness
Gene Deletion
Gene Frequency
Genetic Testing
Hearing Tests
Humans
Infant, Newborn
Membrane Proteins
Mutation
Polymorphism, Single Nucleotide
Citation: American Journal Of Medical Genetics. Part A. v. 143A, n. 14, p. 1574-9, 2007-Jul.
Rights: fechado
Identifier DOI: 10.1002/ajmg.a.31838
Address: http://www.ncbi.nlm.nih.gov/pubmed/17567887
Date Issue: 2007
Appears in Collections:Unicamp - Artigos e Outros Documentos

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