Pathogenic effects of a novel mutation (c.664_681del) in KCNQ4 channels associated with auditory pathology

►Detection a novel mutation consisting of an 18 nucleotide deletion in exon 4 of the KCNQ4 gene in an autosomal dominant non-syndromic hearing loss family. ►A functional in vitro study to analyze the effects of this mutation (c.664_681del) along with two previously described KCNQ4 mutations, p.W276S and p.G285C. ►All mutants inhibit normal channel function by a dominant negative effect and it indicates that the intercellular loop is as significant as the pore region as a potential site of pathogenic effects on KCNQ4 channel function.