FREM1 and oculotrichoanal syndrome: Consequently, their mutation results in the formation of fetal epidermal blisters in a number of human conditions, including Fraser syndrome (FS; FREM2 and FRAS1 mutations), Manitoba oculotrichoanal syndrome (MOTA) and bifid nose/anorectal and renal anomalies syndrome (BNAR) (both caused by mutations in FREM1) (McGregor et al., 2003; Vrontou et al., 2003; Jadeja et al., 2005; Alazami et al., 2009; Vissers et al., 2011).