Digenic inheritance was first reported in 1994 for human RP30 followed by Bardet-Biedl syndrome.31 Recently, digenic inheritance of disease-causing variants in EPHA2 and SLC26A4 have also been reported in Pendred syndrome.32 Recently, Kinoshita and coauthors33 described trigenic ADH5/ALDH2/ADGRV1 mutations in myelodysplasia with Ushers syndrome. This evidence concerns the gene SLC26A4 and Bardet-Biedl syndrome.