Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss

► Genetic/functional analyzes of SLC26A4, FOXI1-DBD, FOXI1, and KCNJ10 in syndromic and non-syndromic deafness. ► SLC26A4 is the most frequently mutated gene in Pendred syndrome. ► Development of a more sensitive fluorometric functional assay for SLC26A4 mutations. ► Novel missense variant was found in FOXI1 gene.