A novel synonymous mutation causing complete skipping of exon 16 in the SLC26A4 gene in a Korean family with hearing loss

► We detected a novel synonymous variant (c.1803G>A, heterozygote) in SLC4A26. ► This sSNP affecting vestibulocochlear organs through altering splicing accuracy. ► We confirmed the novel sSNP causing complete exon 16 skipping in the SLC26A4 gene. ► sSNPs must be consider as pathogenic mutations before ignored as silent mutations.