In our human studies, we found two ways by which altered FAT1 regulation underlies a link with FSHD: 1- we observed muscle-specific lowering in foetal FSHD1 biopsies; 2- we identified a polymorphism deleting a putative cis-regulatory enhancer in the FAT1 locus, which significantly segregated with FSHD. This evidence concerns the gene FAT1 and facioscapulohumeral muscular dystrophy.