Molecular genetics study of deafness in Brazil: 8-year experience

dc.creatorde Oliveira, CA
dc.creatorAlexandrino, F
dc.creatorChristiani, TV
dc.creatorSteiner, CE
dc.creatorCunha, JLR
dc.creatorGuerra, ATM
dc.creatorSartorato, EL
dc.date2007
dc.date42186
dc.date2014-11-17T01:59:39Z
dc.date2015-11-26T16:07:15Z
dc.date2014-11-17T01:59:39Z
dc.date2015-11-26T16:07:15Z
dc.date.accessioned2018-03-28T22:55:56Z
dc.date.available2018-03-28T22:55:56Z
dc.identifierAmerican Journal Of Medical Genetics Part A. Wiley-liss, v. 143A, n. 14, n. 1574, n. 1579, 2007.
dc.identifier1552-4825
dc.identifierWOS:000247760800007
dc.identifier10.1002/ajmg.a.31838
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/57779
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/57779
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/57779
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1266087
dc.descriptionHereditary hearing loss is a complex disorder that involves a large number of genes. in developed countries, I 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-D13S1830) and del(GJB6-D13S1854) deletions in the GJB6 gene, Q829X mutation in the otoferlin gene (OTOF) and, the A1555G and A7445G 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. (C) 2007 Wiley-Liss, Inc.
dc.description143A
dc.description14
dc.description1574
dc.description1579
dc.languageen
dc.publisherWiley-liss
dc.publisherHoboken
dc.publisherEUA
dc.relationAmerican Journal Of Medical Genetics Part A
dc.relationAm. J. Med. Genet. A
dc.rightsfechado
dc.rightshttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.sourceWeb of Science
dc.subjectdeafness
dc.subjectconnexins
dc.subjectmutations
dc.subjectmitochondrial deafness
dc.subjectcochlear implants
dc.subjectConnexin 26 Gene
dc.subjectSensorineural Hearing-loss
dc.subjectAutosomal Recessive Deafness
dc.subjectGjb2 Gene
dc.subjectChildhood Deafness
dc.subjectDominant Deafness
dc.subjectR75q Mutation
dc.subjectFrequency
dc.subjectImpairment
dc.subjectDfnb1
dc.titleMolecular genetics study of deafness in Brazil: 8-year experience
dc.typeArtículos de revistas


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