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Spectrum and Frequency of GJB2 Mutations in a Cohort of 264 Portuguese Nonsyndr...

Matos, T; Simões-Teixeira, H; Caria, H; Gonçalves, AC; Chora, J; Correia, MC; 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 differen...

Date: 2013   |   Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
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