Studies have shown that abnormal expression of HMCN1 is associated with age-related macular degeneration (Pras et al., 2015), tumorigenesis (Liu et al., 2019), Fraser syndrome (Carney et al., 2010), and cell fibrosis (Chowdhury et al., 2017) and glomerular disease (Toffoli et al., 2018). Here, HMCN1 is linked to Fraser syndrome.