In addition, proband 42 was endowed with a homozygous missense variant, c.7454del p.(Arg2485Hisfs*77) in OTOG (Table 1), which causes autosomal recessive deafness (DFNB18B; OMIM 614945) (Downie et al. 2020) and may aggravate the HI phenotype. The gene discussed is OTOG; the disease is deafness.