In this study, the clinical manifestations of the family members carrying the c.481C>T (p.R161C) mutation in SOX10 are distinct along three different generations: typical WS2 phenotype (hearing loss and hair hypopigmentation) in the paternal grandmother, hair hypopigmentation only in the father, and hearing loss only in the proband. Here, SOX10 is linked to Waardenburg syndrome type 2.