RT Journal Article SR Electronic T1 Mutations in FLNB cause boomerang dysplasia JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP e43 OP e43 DO 10.1136/jmg.2004.029967 VO 42 IS 7 A1 L S Bicknell A1 T Morgan A1 L Bonafé A1 M W Wessels A1 M G Bialer A1 P J Willems A1 D H Cohn A1 D Krakow A1 S P Robertson YR 2005 UL http://jmg.bmj.com/content/42/7/e43.abstract AB Boomerang dysplasia (BD) is a perinatal lethal osteochondrodysplasia, characterised by absence or underossification of the limb bones and vertebrae. The BD phenotype is similar to a group of disorders including atelosteogenesis I, atelosteogenesis III, and dominantly inherited Larsen syndrome that we have recently shown to be associated with mutations in FLNB, the gene encoding the actin binding cytoskeletal protein, filamin B. We report the identification of mutations in FLNB in two unrelated individuals with boomerang dysplasia. The resultant substitutions, L171R and S235P, lie within the calponin homology 2 region of the actin binding domain of filamin B and occur at sites that are evolutionarily well conserved. These findings expand the phenotypic spectrum resulting from mutations in FLNB and underline the central role this protein plays during skeletogenesis in humans.