Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy.
Kohei HamanakaDarina ŠikrováSatomi MitsuhashiHiroki MasudaYukari SekiguchiAtsuhiko SugiyamaKazumoto ShibuyaRichard J L F LemmersRemko GoossensMegumu OgawaKoji NagaoChikashi ObuseSatoru NoguchiYukiko K HayashiSatoshi KuwabaraJudit BalogIchizo NishinoSilvère M van der MaarelPublished in: Neurology (2020)
LRIF1 is a bona fide disease gene for FSHD2. This study further reinforces the unifying genetic mechanism, which postulates that FSHD is caused by D4Z4 chromatin relaxation, resulting in inappropriate DUX4 expression in skeletal muscle.