PAX3 and Werner syndrome: In this study, we had confirmed seven novel heterozygous variants which are the genetic causes of 14 WS patients from seven unrelated families, including c.1459C > T (nonsense), c.123del (frameshift), and c.959-409_1173+3402del (deletion) of PAX3 (NM_181459.4), c.198_262del (frameshift) and c.529_556del (frameshift) of SOX10 (NM_006941.4), and c.731G > A (missense) and c.970dup (frameshift) of MITF (NM_000248.3) (Table 3).