PAX3 and Waardenburg syndrome type 2: In this present study, we have identified mutations in PAX3 in cases (Subjects 2, 4, 6, 49, 51, 54, 90, 91, 98, and 104) without dystopia canthorum, typical WS type 2 characteristic; conversely, Subjects 67, 68, and 110 with the clinical feature of WS type 1 (with the presence of dystopia canthorum) were found to carry MITF variants.