Molecular Study In Brazilian Cochlear Implant Recipients.

dc.creatorChristiani, Thalita Vitachi
dc.creatorAlexandrino, Fabiana
dc.creatorde Oliveira, Camila Andréa
dc.creatorAmantini, Regina Célia Bortoleto
dc.creatorBevilacqua, Maria Cecília
dc.creatorFilho, Orozimbo Alves Costa
dc.creatorPorto, Paulo
dc.creatorSartorato, Edi Lúcia
dc.date2007-Jul
dc.date2015-11-27T13:10:11Z
dc.date2015-11-27T13:10:11Z
dc.date.accessioned2018-03-29T01:04:59Z
dc.date.available2018-03-29T01:04:59Z
dc.identifierAmerican Journal Of Medical Genetics. Part A. v. 143A, n. 14, p. 1580-2, 2007-Jul.
dc.identifier1552-4825
dc.identifier10.1002/ajmg.a.31778
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/17567889
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/197333
dc.identifier17567889
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1297566
dc.descriptionThe most common form of non-syndromic autosomal recessive deafness (NSRD) is caused by mutations in the GJB2 gene. Recently, a deletion truncating the GJB6 gene, called del(GJB6-D13S1,830) 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 be 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-D13S1,830). 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.
dc.description143A
dc.description1580-2
dc.languageeng
dc.relationAmerican Journal Of Medical Genetics. Part A
dc.relationAm. J. Med. Genet. A
dc.rightsfechado
dc.rights(c) 2007 Wiley-Liss, Inc
dc.sourcePubMed
dc.subjectBrazil
dc.subjectCochlear Implantation
dc.subjectCochlear Implants
dc.subjectConnexins
dc.subjectDna Mutational Analysis
dc.subjectGene Frequency
dc.subjectGenetic Testing
dc.subjectHearing Loss
dc.subjectHumans
dc.subjectMutation
dc.titleMolecular Study In Brazilian Cochlear Implant Recipients.
dc.typeArtículos de revistas


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