FLNB and Leigh syndrome: Mutations in the FLNB (filamin B; MIM 603381) gene cause a group of skeletal dysplasias comprising spondylocarpotarsal syndrome (SCT, MIM 272460), Larsen syndrome (LS, MIM 150250), atelosteogenesis I and III (AOI, MIM 108720; AOIII, MIM 108721), and boomerang dysplasia (BD, MIM 112310) [1].