Therefore, the genetic configuration M2 (biallelic pathogenic SLC26A4 sequence alterations) was found in 5/32 (16%) of patients (Fig. 4) of our cohort, consistent with other Caucasian cohorts with hearing loss and EVA, where biallelic pendrin sequence alterations are found in approximately 25% of patients (Ito et al. 2013). This evidence concerns the gene SLC26A4 and hearing loss disorder.