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Spectrum and Frequency of GJB2 Mutations in a Cohort of 264 Portuguese Nonsyndromic Sensorineural Hearing Loss Patients

2013-07Journal article Open access
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dc.contributor.authorMatos, T
dc.contributor.authorSimões-Teixeira, H
dc.contributor.authorCaria, H
dc.contributor.authorGonçalves, AC
dc.contributor.authorChora, J
dc.contributor.authorCorreia, MC
dc.contributor.authorMoura, C
dc.contributor.authorRosa, H
dc.contributor.authorMonteiro, L
dc.contributor.authorO'Neill, A
dc.contributor.authorDias, O
dc.contributor.authorAndrea, M
dc.contributor.authorFialho, G
dc.date.accessioned2016-05-24T13:52:58Z
dc.date.available2016-05-24T13:52:58Z
dc.date.issued2013-07
dc.description.abstractOBJECTIVE: To assess the spectrum and prevalence of mutations in the GJB2 gene in Portuguese nonsyndromic sensorineural hearing loss (NSSHL) patients. DESIGN: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. STUDY SAMPLE: A cohort of 264 Portuguese NSSHL patients. RESULTS: At least one out of 21 different GJB2 variants was identified in 80 (30.2%) of the 264 patients analysed. Two mutant alleles were found in 53 (20%) of these probands, of which 83% (44/53) harboured at least one c.35delG allele. Twenty-seven (10.2%) of the probands harboured only one mutant allele. Subsequent analysis revealed that the GJB6 deletion del(GJB6-D13S1854) was present in at least 7.4% (2/27) of the patients carrying only one mutant GJB2 allele. Overall, one in five (55/264) of the patients were diagnosed as having DFNB1-related NSSHL, of which the vast majority (53/55) harboured only GJB2 mutations. CONCLUSIONS: This study provides clear demonstration that mutations in the GJB2 gene are an important cause of NSSHL in Portugal, thus representing a valuable indicator as regards therapeutical and rehabilitation options, as well as genetic counseling of these patients and their families.pt_PT
dc.identifier.citationInt J Audiol. 2013 Jul;52(7):466-71pt_PT
dc.identifier.doi10.3109/14992027.2013.783719pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/2497
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherInforma Healthcarept_PT
dc.subjectAudiometrypt_PT
dc.subjectConnexinspt_PT
dc.subjectDNA Mutational Analysispt_PT
dc.subjectExonspt_PT
dc.subjectGene Frequencypt_PT
dc.subjectGenetic Predisposition to Diseasept_PT
dc.subjectHearing Loss, Sensorineuralpt_PT
dc.subjectHumanspt_PT
dc.subjectOtoscopypt_PT
dc.subjectPhenotypept_PT
dc.subjectPortugalpt_PT
dc.subjectRNA Splice Sitespt_PT
dc.subjectSeverity of Illness Indexpt_PT
dc.subjectMutationpt_PT
dc.subjectHDE ORLpt_PT
dc.titleSpectrum and Frequency of GJB2 Mutations in a Cohort of 264 Portuguese Nonsyndromic Sensorineural Hearing Loss Patientspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage471pt_PT
oaire.citation.issue7pt_PT
oaire.citation.startPage466pt_PT
oaire.citation.titleInternational journal of audiologypt_PT
oaire.citation.volume52pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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