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The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva.
J Hum Genet. 2007; 52(5):473-475.JH

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+Show Affiliations

Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan.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.Department of Orthopedics, Shizuoka Children's Hospital, Shizuoka, Japan. Department of Orthopedic Surgery, The University of Tokyo, Tokyo, Japan.Department of Orthopedic Surgery, The University of Tokyo, Tokyo, Japan.Department of Radiology, Tokyo Metropolitan Kiyose Children's Hospital, Kiyose, Tokyo, Japan.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.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

17351709

Citation

Nakajima, Masahiro, et al. "The ACVR1 617G>A Mutation Is Also Recurrent in Three Japanese Patients With Fibrodysplasia Ossificans Progressiva." Journal of Human Genetics, vol. 52, no. 5, 2007, pp. 473-475.
Nakajima M, Haga N, Takikawa K, et al. The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva. J Hum Genet. 2007;52(5):473-475.
Nakajima, M., Haga, N., Takikawa, K., Manabe, N., Nishimura, G., & Ikegawa, S. (2007). The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva. Journal of Human Genetics, 52(5), 473-475. https://doi.org/10.1007/s10038-007-0128-3
Nakajima M, et al. The ACVR1 617G>A Mutation Is Also Recurrent in Three Japanese Patients With Fibrodysplasia Ossificans Progressiva. J Hum Genet. 2007;52(5):473-475. PubMed PMID: 17351709.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva. AU - Nakajima,Masahiro, AU - Haga,Nobuhiko, AU - Takikawa,Kazuharu, AU - Manabe,Noriyo, AU - Nishimura,Gen, AU - Ikegawa,Shiro, Y1 - 2007/03/10/ PY - 2007/01/15/received PY - 2007/02/14/accepted PY - 2007/3/14/pubmed PY - 2007/8/10/medline PY - 2007/3/14/entrez SP - 473 EP - 475 JF - Journal of human genetics JO - J Hum Genet VL - 52 IS - 5 N2 - 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. SN - 1434-5161 UR - https://www.unboundmedicine.com/medline/citation/17351709/The_ACVR1_617G>A_mutation_is_also_recurrent_in_three_Japanese_patients_with_fibrodysplasia_ossificans_progressiva_ L2 - http://www.diseaseinfosearch.org/result/2849 DB - PRIME DP - Unbound Medicine ER -