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Browsing by Author "Chora, J."

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  • A Novel p.Leu213X Mutation in GJB2 Gene in a Portuguese Family
    Publication . Gonçalves, A. C.; Chora, J.; Matos, T. D.; O'Neill, A.; Escada, P.; Fialho, G.; Caria, H.
    2013Preprint Open access Show more
  • Spectrum and frequency of gjb2 mutations in a cohort of 264 portuguese nonsyndromic sensorineural hearing loss patients
    Publication . Matos, T. D.; Simões-Teixeira, H.; Caria, Helena; Gonçalves, A. C.; Chora, J.; Correia, M. C.; Moura, C.; Rosa, H.; Monteiro, L.; O'Neill, A.; Dias, O.; Andrea, M.; Fialho, G.
    Objective: 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.
    2013Preprint Open access Show more
  • Two portuguese cochlear implanted dizygotic twins: a case report.
    Publication . Chora, J.; Simões-Teixeira, H.; Matos, T. D.; Martins, J. H.; Alves, M.; Ferreira, R.; Silva, L.; Ribeiro, C.; Fialho, G.; Caria, H.
    2012Journal article Open access Show more