PDZD7 and Usher syndrome: For Family NT‐47, we identified novel compound heterozygous mutations p.525_533delDQERGRALLinsV/p.R164W in PDZD7. Previous report has associated PDZD7 mutations with digenic Usher syndrome (Ebermann et al., 2010) and DFNB57 (Guan et al., 2018; Luo et al., 2019).