Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/197019
Type: Artigo de periódico
Title: Molecular Investigation In Children Candidates And Submitted To Cochlear Implantation.
Author: Bernardes, Raquel
Bortoncello, Silvana
Christiani, Thalita Vitachi
Sartorato, Edi Lúcia
Silva, Rodrigo César e
Porto, Paulo R Cantanhede
Abstract: Recent progresses in molecular biology have been made in the diagnosis of sensorineural hearing loss. The high prevalence of a connexin 26 gene mutation, and its easy identification have made the diagnosis possible. The most frequent gene mutation is called 35delG. The purpose of this study was to evaluate the prevalence of 35delG mutation in children submitted to cochlear implantation who had severe and profound hearing loss previously diagnosed as idiopathic. The study was done at the Cochlear Implantation Clinic of the Otolaryngology Department and at the Laboratório Genética Humana-CBMEG, UNICAMP-SP. 32 children with severe to profound sensorineural hearing loss were evaluated. The detection of the 35delG mutation was made by a allele-specific PCR, using primers and polymerase chain reaction. 69% had a normal exam, 12% were homozygous for the mutation, 19% of the cases were heterozygous. The 35delG mutation in heterozygous is not a cause of hearing loss. The data confirm the high prevalence of the 35delG mutation in nonsyndromic bilateral profound sensorineural hearing loss. It was also possible to diagnose the cause of hearing loss as genetic in a significant percentage of patients. That stresses the importance of the molecular investigation in those cases formerly classified as idiopathic.
Subject: Child
Cochlear Implantation
Connexins
Hearing Loss, Bilateral
Hearing Loss, Sensorineural
Heterozygote
Homozygote
Humans
Mutation
Polymerase Chain Reaction
Severity Of Illness Index
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/17119768
Date Issue: -1-Uns- -1
Appears in Collections:Unicamp - Artigos e Outros Documentos

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