Later on, a nonsense homozygous mutation (c.1104C>A, p. Cys368*) and a homozygous small insertion (c.1173_1174insGCCCG, p. Pro392Alafs*19) in PAX1 gene were also identified in OTFCS patients (Paganini et al., 2017; Patil et al., 2018). The gene discussed is PAX1; the disease is otofaciocervical syndrome 1.