GJB2 and deafness: Taken together, our analysis suggested that PDS in this family could be a complex polygenic disorder which attributed to a combination of 3 heterozygous mutations implicated in deafness-related genes (SLC26A4:p.Ser448Leu; GJB2:p.Thr123Asn; SCARB2:p.Thr305Met), as well as a compound heterozygous mutation implicated in gene associated with thyroid function (DUOX2:p.Lys530* & p.Arg1110Gln).