title: The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva.
abstract: Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of skeletal malformations and presents progressive extra-skeletal ossification. The 617G>A (R206H) mutation in the activin receptor type IA (ACVR1) gene has been identified in all examined individuals with FOP of various ethnic groups, including Caucasian and Chinese descents. Here, we examined three Japanese patients with FOP for ACVR1 mutations. We identified the 617G>A mutation in all three patients. Our results suggest that the mutation in the ACVR1 gene is common and recurrent in the global population.
authors.affiliation: Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan.
authors.forename: Masahiro
authors.initials: M
authors.lastname: Nakajima
authors.affiliation: Department of Orthopedics, Shizuoka Children's Hospital, Shizuoka, Japan.|Department of Orthopedic Surgery, The University of Tokyo, Tokyo, Japan.|Department of Rehabilitation Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Haga
authors.affiliation: Department of Orthopedics, Shizuoka Children's Hospital, Shizuoka, Japan.|Department of Orthopedic Surgery, The University of Tokyo, Tokyo, Japan.
authors.forename: Kazuharu
authors.initials: K
authors.lastname: Takikawa
authors.affiliation: Department of Orthopedic Surgery, The University of Tokyo, Tokyo, Japan.
authors.forename: Noriyo
authors.initials: N
authors.lastname: Manabe
authors.affiliation: Department of Radiology, Tokyo Metropolitan Kiyose Children's Hospital, Kiyose, Tokyo, Japan.
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.affiliation: Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan. sikegawa@ims.u-tokyo.ac.jp.
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
mesh_terms: D030201:Activin Receptors, Type I / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D009221:Myositis Ossificans / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D012008:Recurrence
chemical_list: C425423:ACVR1 protein, human; D030201:Activin Receptors, Type I