Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness

dc.creatorPiatto, VB
dc.creatorBertollo, EMG
dc.creatorSartorato, EL
dc.creatorManiglia, JV
dc.date2004
dc.dateOCT
dc.date2014-11-14T22:20:17Z
dc.date2015-11-26T17:17:28Z
dc.date2014-11-14T22:20:17Z
dc.date2015-11-26T17:17:28Z
dc.date.accessioned2018-03-29T00:05:19Z
dc.date.available2018-03-29T00:05:19Z
dc.identifierHearing Research. Elsevier Science Bv, v. 196, n. 41671, n. 87, n. 93, 2004.
dc.identifier0378-5955
dc.identifierWOS:000224608700012
dc.identifier10.1016/j.heares.2004.05.007
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/70240
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/70240
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/70240
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1282454
dc.descriptionMutations in the GJB2 gene are the most common cause of sensorineural non-syndromic deafness in different populations. One specific mutation, 35delG, has accounted for the majority of the mutations detected in the GJB2 gene in many countries. The aim of this study was to determine the prevalence of GJB2 mutations and the del(GJB6-D13S1830) mutation in non-syndromic deaf Brazilians. The 33 unrelated probands were examined by clinical evaluation to exclude syndromic forms of deafness. Mutation analysis in the GJB2 gene and the testing for the del(GJB6-Dl3S1830) were performed in both the patients and their family members. The 35delG mutation was found in nine of the probands or in 14 of the mutated alleles. The V371 mutation and the del(GJB6-D13S1830) mutation were also found in two patients, both are compound heterozygote with 35delG mutation. These findings strengthen the importance of genetic diagnosis, providing early treatment, and genetic counseling of deaf patients. (C) 2004 Elsevier B.V. All rights reserved.
dc.description196
dc.description41671
dc.description87
dc.description93
dc.languageen
dc.publisherElsevier Science Bv
dc.publisherAmsterdam
dc.publisherHolanda
dc.relationHearing Research
dc.relationHear. Res.
dc.rightsfechado
dc.rightshttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.sourceWeb of Science
dc.subjecthearing loss
dc.subjectmolecular analysis
dc.subjectconnexin 26
dc.subject35delG mutation
dc.subjectdel(GJB6-D13S1830) mutation
dc.subjectConnexin 26 Gene
dc.subjectAutosomal-recessive Deafness
dc.subjectNonsyndromic Hearing-loss
dc.subjectSensorineural Deafness
dc.subjectPrelingual Deafness
dc.subjectGreek Population
dc.subject35delg Mutation
dc.subjectUnited-states
dc.subjectFrequency
dc.subjectDfnb1
dc.titlePrevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness
dc.typeArtículos de revistas


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