Spectrum and frequency ofGJB2mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients

To assess the spectrum and prevalence of mutations in the GJB2 gene in Portuguese nonsyndromic sensorineural hearing loss (NSSHL) patients.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.A cohort of 264 Portuguese NSSHL patients.At least one out of 21 different GJB2 variants was identified in 80 (30.2%) of the 264 patients analysed. Two...