Screening for the GJB2 c.-3170 G > A (IVS 1+1 G > A) Mutation in Brazilian Deaf Individuals Using Multiplex Ligation-Dependent Probe Amplification

dc.creatorda Silva-Costa, SM
dc.creatorCoeli, FB
dc.creatorLincoln-de-Carvalho, CR
dc.creatorMarques-de-Faria, AP
dc.creatorKurc, M
dc.creatorPereira, T
dc.creatorPomilio, MCA
dc.creatorSartorato, EL
dc.date2009
dc.dateOCT
dc.date2014-07-30T18:35:43Z
dc.date2015-11-26T16:35:28Z
dc.date2014-07-30T18:35:43Z
dc.date2015-11-26T16:35:28Z
dc.date.accessioned2018-03-28T23:17:57Z
dc.date.available2018-03-28T23:17:57Z
dc.identifierGenetic Testing And Molecular Biomarkers. Mary Ann Liebert Inc, v. 13, n. 5, n. 701, n. 704, 2009.
dc.identifier1945-0265
dc.identifierWOS:000270601500024
dc.identifier10.1089/gtmb.2009.0025
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/71553
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/71553
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1271522
dc.descriptionMutations in GJB2 gene are the most common cause of nonsyndromic sensorineural recessive hearing loss. One specific mutation, c.35delG, is the most frequent in the majority of Caucasian populations and may account for up to 70% of all GJB2 mutations. However, 10-40% of the patients carry only one pathogenic mutation in the GJB2 gene. Deletions del(GJB6-D13S1830) and del(GJB6-D13S1854), truncating the GJB6 gene, have been detected in GJB2 heterozygous patients in different populations. The IVS 1+1 G > A splice site mutation in the noncoding region of the GJB2 gene has been found in heterozygous state in addition to c.35delG mutation. This mutation has not been reported in Brazilian deaf patients. In the present study we investigated the presence of the IVS 1+1 G > A mutation by multiplex ligation-dependent probe amplification in 185 unrelated Brazilian patients with autosomal recessive nonsyndromic sensorineural hearing loss (43 heterozygous patients and 142 without any pathogenic mutation in the GJB2-coding region). We have found two patients (4.6%) carrying the IVS 1+1 G > A mutation in compound heterozygous with c.35delG mutation.
dc.description13
dc.description5
dc.description701
dc.description704
dc.languageen
dc.publisherMary Ann Liebert Inc
dc.publisherNew Rochelle
dc.publisherEUA
dc.relationGenetic Testing And Molecular Biomarkers
dc.relationGenet. Test. Mol. Biomark.
dc.rightsaberto
dc.sourceWeb of Science
dc.subjectHearing-loss
dc.subjectDel(gjb6-d13s1830) Mutation
dc.subjectConnexin-26 Gene
dc.subjectPopulation
dc.subjectImpairment
dc.subjectPrevalence
dc.subjectAlleles
dc.subjectDfnb1
dc.subjectMulticenter
dc.subjectFrequencies
dc.titleScreening for the GJB2 c.-3170 G > A (IVS 1+1 G > A) Mutation in Brazilian Deaf Individuals Using Multiplex Ligation-Dependent Probe Amplification
dc.typeArtículos de revistas


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