The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva.
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.
Nakajima
Masahiro
M
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan.
Haga
Nobuhiko
N
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.
Takikawa
Kazuharu
K
Department of Orthopedics, Shizuoka Children's Hospital, Shizuoka, Japan.|Department of Orthopedic Surgery, The University of Tokyo, Tokyo, Japan.
Manabe
Noriyo
N
Department of Orthopedic Surgery, The University of Tokyo, Tokyo, Japan.
Nishimura
Gen
G
Department of Radiology, Tokyo Metropolitan Kiyose Children's Hospital, Kiyose, Tokyo, Japan.
Ikegawa
Shiro
S
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.
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
C425423:ACVR1 protein, human; D030201:Activin Receptors, Type I