Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/320451
Type: Artigo de Periódico
Title: Molecular Study Of Patients With Auditory Neuropathy
Author: De Carvalho
GM; Ramos
PZ; Castilho
AM; Guimaraes
AC; Sartorato
EL
Abstract: Auditory 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 beta 2 (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 similar to 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 counseling.
Subject: Auditory Neuropathy Spectrum Disorder
Evoked Auditory Brainstem Response
Otoacoustic Emissions
Gjb2
Hearing Loss
Editor: SPANDIDOS PUBL LTD
Rights: embargo
Identifier DOI: 10.3892/mmr.2016.5226
Address: https://www.spandidos-publications.com/10.3892/mmr.2016.5226
Date Issue: 2016
Appears in Collections:Unicamp - Artigos e Outros Documentos

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