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dc.contributor.CRUESPUNIVERSIDADE ESTADUAL DE CAMPINASpt_BR
dc.contributor.authorunicampRamos, Priscila Zonzini-
dc.contributor.authorunicampSartorato, Edi Lúcia-
dc.typeArtigopt_BR
dc.titleMolecular study of patients with auditory neuropathypt_BR
dc.contributor.authorCarvalho, Guilherme Machado de-
dc.contributor.authorRamos, Priscila Zonzini-
dc.contributor.authorCastilho, Arthur Menino-
dc.contributor.authorGuimarães, Alexandre Caixeta-
dc.contributor.authorSartorato, Edi Lúcia-
dc.subjectPerda auditivapt_BR
dc.subject.otherlanguageHearing losspt_BR
dc.description.abstractAuditory neuropathy is a type of hearing loss that constitutes a change in the conduct of the auditory stimulus by the involvement of inner hair cells or auditory nerve synapses. It is characterized by the absence or alteration of waves in the examination of brainstem auditory evoked potentials, with otoacoustic and/or cochlear microphonic issues. At present, four loci associated with non‑syndromic auditory neuropathy have been mapped: Autosomal recessive deafness‑9 [DFNB9; the otoferlin (OTOF) gene] and autosomal recessive deafness‑59 [DFNB59; the pejvakin (PJVK) gene], associated with autosomal recessive inheritance; the autosomal dominant auditory neuropathy gene [AUNA1; the diaphanous‑3 (DIAPH3) gene]; and AUNX1, linked to chromosome X. Furthermore, mutations of connexin 26 [the gap junction β2 (GJB2) gene] have also been associated with the disease. OTOF gene mutations exert a significant role in auditory neuropathy. In excess of 80 pathogenic mutations have been identified in individuals with non‑syndromic deafness in populations of different origins, with an emphasis on the p.Q829X mutation, which was found in ~3% of cases of deafness in the Spanish population. The identification of genetic alterations responsible for auditory neuropathy is one of the challenges contributing to understand the molecular bases of the different phenotypes of hearing loss. Thus, the present study aimed to investigate molecular changes in the OTOF gene in patients with auditory neuropathy, and to develop a DNA chip for the molecular diagnosis of auditory neuropathy using mass spectrometry for genotyping. Genetic alterations were investigated in 47 patients with hearing loss and clinical diagnosis of auditory neuropathy, and the c.35delG mutation in the GJB2 gene was identified in three homozygous patients, and the heterozygous parents of one of these cases. Additionally, OTOF gene mutations were tracked by complete sequencing of 48 exons, although these results are still preliminary. Studying the genetic basis of auditory neuropathy is of utmost importance for obtaining a differential diagnosis, developing more specific treatments and more accurate genetic counselingpt_BR
dc.relation.ispartofMolecular medicine reportspt_BR
dc.relation.ispartofabbreviationMol. med. rep.pt_BR
dc.publisher.cityAthenspt_BR
dc.publisher.countryGréciapt_BR
dc.publisherSpandidospt_BR
dc.date.issued2016-
dc.date.monthofcirculationJulypt_BR
dc.language.isoengpt_BR
dc.description.volume14pt_BR
dc.description.issuenumber1pt_BR
dc.description.firstpage481pt_BR
dc.description.lastpage490pt_BR
dc.rightsFechadopt_BR
dc.sourceWOSpt_BR
dc.identifier.issn1791-2997pt_BR
dc.identifier.eissn1791-3004pt_BR
dc.identifier.doi10.3892/mmr.2016.5226pt_BR
dc.identifier.urlhttps://www.spandidos-publications.com/10.3892/mmr.2016.5226pt_BR
dc.description.sponsorshipCOORDENAÇÃO DE APERFEIÇOAMENTO DE PESSOAL DE NÍVEL SUPERIOR - CAPESpt_BR
dc.description.sponsorshipCONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO - CNPQpt_BR
dc.description.sponsordocumentnumbernão tempt_BR
dc.description.sponsordocumentnumbernão tempt_BR
dc.date.available2021-01-21T18:02:23Z-
dc.date.accessioned2021-01-21T18:02:23Z-
dc.description.provenanceSubmitted by Mariana Aparecida Azevedo (mary1@unicamp.br) on 2021-01-21T18:02:23Z No. of bitstreams: 0. Added 1 bitstream(s) on 2021-02-16T19:31:21Z : No. of bitstreams: 1 000379551700064.pdf: 397295 bytes, checksum: a24323f472b81493c8054a1a63326520 (MD5)en
dc.description.provenanceMade available in DSpace on 2021-01-21T18:02:23Z (GMT). No. of bitstreams: 0 Previous issue date: 2016en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/354574-
dc.contributor.departmentsem informaçãopt_BR
dc.contributor.departmentsem informaçãopt_BR
dc.contributor.unidadeInstituto de Biologiapt_BR
dc.contributor.unidadeCentro de Biologia Molecular e Engenharia Genéticapt_BR
dc.subject.keywordAuditory neuropathy spectrum disorderpt_BR
dc.subject.keywordGjb2pt_BR
dc.subject.keywordEvoked auditory brainstem responsept_BR
dc.subject.keywordOtoacoustic emissionspt_BR
dc.identifier.source000379551700064pt_BR
dc.creator.orcid0000-0001-6716-2504pt_BR
dc.creator.orcid0000-0002-2000-0118pt_BR
dc.type.formArtigopt_BR
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