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A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H).
Am J Med Genet A. 2008 Feb 15; 146A(4):459-63.AJ

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant congenital disease characterized by progressive heterotopic endochondral osteogenesis with great-toe malformations. A 617G > A (R206H) mutation of the activin A type 1 receptor gene (ACVR1) has been found in all previously reported patients with FOP. Thus, this is one of the most specific of all disease-associated mutations. We report here on a 62-year-old man with slowly progressive FOP and a novel mutation in ACVR1. He developed difficulty in moving his shoulder since age 10 years due to contraction of the shoulder joint. The symptoms progressed slowly, and he could not walk at age 36 years and was bedridden at 55 years. He also showed rigid spine, baldness, sensorineural hearing loss, and hypodactyly accompanied by abnormal ectopic ossification. Analysis of ACVR1 and its cDNA revealed that the patient is heterozygous for a mutation, 1067G > A (G356D). Typing of SNPs located in the approximately 0.5-Mb region spanning ACVR1 and its neighbor genes suggested that 1067G > A is a de novo mutation. These results give a clue to better understanding of FOP as well as of the mild clinical symptoms in the patient.

Authors+Show Affiliations

Department of Neurology, Neuro-Muscular Center, National Omuta Hospital, Fukuoka, Japan. furuya@oomuta.hosp.go.jpNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18203193

Citation

Furuya, Hirokazu, et al. "A Unique Case of Fibrodysplasia Ossificans Progressiva With an ACVR1 Mutation, G356D, Other Than the Common Mutation (R206H)." American Journal of Medical Genetics. Part A, vol. 146A, no. 4, 2008, pp. 459-63.
Furuya H, Ikezoe K, Wang L, et al. A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H). Am J Med Genet A. 2008;146A(4):459-63.
Furuya, H., Ikezoe, K., Wang, L., Ohyagi, Y., Motomura, K., Fujii, N., Kira, J., & Fukumaki, Y. (2008). A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H). American Journal of Medical Genetics. Part A, 146A(4), 459-63. https://doi.org/10.1002/ajmg.a.32151
Furuya H, et al. A Unique Case of Fibrodysplasia Ossificans Progressiva With an ACVR1 Mutation, G356D, Other Than the Common Mutation (R206H). Am J Med Genet A. 2008 Feb 15;146A(4):459-63. PubMed PMID: 18203193.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H). AU - Furuya,Hirokazu, AU - Ikezoe,Koji, AU - Wang,Lixiang, AU - Ohyagi,Yasumasa, AU - Motomura,Kyoko, AU - Fujii,Naoki, AU - Kira,Jun-Ichi, AU - Fukumaki,Yasuyuki, PY - 2008/1/19/pubmed PY - 2008/3/14/medline PY - 2008/1/19/entrez SP - 459 EP - 63 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 146A IS - 4 N2 - Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant congenital disease characterized by progressive heterotopic endochondral osteogenesis with great-toe malformations. A 617G > A (R206H) mutation of the activin A type 1 receptor gene (ACVR1) has been found in all previously reported patients with FOP. Thus, this is one of the most specific of all disease-associated mutations. We report here on a 62-year-old man with slowly progressive FOP and a novel mutation in ACVR1. He developed difficulty in moving his shoulder since age 10 years due to contraction of the shoulder joint. The symptoms progressed slowly, and he could not walk at age 36 years and was bedridden at 55 years. He also showed rigid spine, baldness, sensorineural hearing loss, and hypodactyly accompanied by abnormal ectopic ossification. Analysis of ACVR1 and its cDNA revealed that the patient is heterozygous for a mutation, 1067G > A (G356D). Typing of SNPs located in the approximately 0.5-Mb region spanning ACVR1 and its neighbor genes suggested that 1067G > A is a de novo mutation. These results give a clue to better understanding of FOP as well as of the mild clinical symptoms in the patient. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/18203193/A_unique_case_of_fibrodysplasia_ossificans_progressiva_with_an_ACVR1_mutation_G356D_other_than_the_common_mutation__R206H__ L2 - https://doi.org/10.1002/ajmg.a.32151 DB - PRIME DP - Unbound Medicine ER -