Molecular study in Brazilian cochlear implant recipients

dc.creatorChristiani, TV
dc.creatorAlexandrino, F
dc.creatorde Oliveira, CA
dc.creatorAmantini, RCB
dc.creatorBevilacqua, MC
dc.creatorCosta, OA
dc.creatorPorto, P
dc.creatorSartorato, EL
dc.date2007
dc.date42186
dc.date2014-11-17T06:19:01Z
dc.date2015-11-26T16:57:47Z
dc.date2014-11-17T06:19:01Z
dc.date2015-11-26T16:57:47Z
dc.date.accessioned2018-03-28T23:45:23Z
dc.date.available2018-03-28T23:45:23Z
dc.identifierAmerican Journal Of Medical Genetics Part A. Wiley-liss, v. 143A, n. 14, n. 1580, n. 1582, 2007.
dc.identifier1552-4825
dc.identifierWOS:000247760800008
dc.identifier10.1002/ajmg.a.31778
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/57810
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/57810
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/57810
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1277762
dc.descriptionThe most common form of non-syndromic atitosomal recessive deafness (NSRD) is Caused by mutations in the GJB2 gene. Recently, a deletion truncating the GJB6 gene, called del(GJB6-D13S1830) has also been described normally accompanying mutations in another allele of the GJB2 gene. Among all the mutations described to date, 35delG in the GJB2 gene is the most common. Preliminary data suggest that pathologic changes due to GJB2 mutations do not affect the spiral ganglion cells, which are the site of stimulation of the cochlear implant. Besides, the survival of the spiral ganglion cells is believed to he an important determinant of the outcome after surgery. Therefore, we have studied 49 non-syndromic deaf patients with unknown etiologies in order to determine the prevalence of GJB2 and GJB6 gene mutations in patients undergoing cochlear implantation surgery. Also, the molecular studies were performed using polymerase chain reaction amplification and direct sequencing. As a result, we found 19 individuals with GJB2 mutation including one new mutation (K168R), one patient homozygous for the del(GJB6-D13S1830). These results establish that genetic screening can provide an etiologic diagnosis, and may help with prognosis after cochlear implantation, as has been hypothesized in previous studies. (C) 2007 Wiley-Liss, Inc.
dc.description143A
dc.description14
dc.description1580
dc.description1582
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.subjectcochlear implantation
dc.subjectmutation screening
dc.subjectDeafness
dc.subjectMutations
dc.subjectConnexin-26
dc.subjectGene
dc.subjectPerformance
dc.subjectDfnb1
dc.titleMolecular study in Brazilian cochlear implant recipients
dc.typeArtículos de revistas


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