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ACVR1 gene mutation in sporadic Korean patients with fibrodysplasia ossificans progressiva.
J Korean Med Sci. 2009 Jun; 24(3):433-7.JK

Abstract

Fibrodysplasia ossificans progressiva (FOP; OMIM 135100) is a rare but extremely disabling genetic disorder of the skeletal system, and is characterized by the progressive development of ectopic ossification of skeletal muscles and subsequent joint ankylosis. The c.617G>A; p.R206H point mutation in the activin A type I receptor (ACVR1) gene has been reported to be a causative mutation of FOP. In the present study, mutation analysis of the ACVR1 gene was performed in 12 patients diagnosed or suspected to have FOP. All patients tested had a de novo heterozygous point mutation of c.617G>A; p.R206H in ACVR1. Mutation analysis confirmed a diagnosis of FOP in patients with ambiguous features, and thus, could be used for diagnostic purposes. Early confirmation through mutation analysis would allow medical professionals to advise on the avoidance of provoking events to delay catastrophic flare-ups of ectopic ossifications.

Authors+Show Affiliations

Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul, Korea.No 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

19543505

Citation

Lee, Dong Yeon, et al. "ACVR1 Gene Mutation in Sporadic Korean Patients With Fibrodysplasia Ossificans Progressiva." Journal of Korean Medical Science, vol. 24, no. 3, 2009, pp. 433-7.
Lee DY, Cho TJ, Lee HR, et al. ACVR1 gene mutation in sporadic Korean patients with fibrodysplasia ossificans progressiva. J Korean Med Sci. 2009;24(3):433-7.
Lee, D. Y., Cho, T. J., Lee, H. R., Park, M. S., Yoo, W. J., Chung, C. Y., & Choi, I. H. (2009). ACVR1 gene mutation in sporadic Korean patients with fibrodysplasia ossificans progressiva. Journal of Korean Medical Science, 24(3), 433-7. https://doi.org/10.3346/jkms.2009.24.3.433
Lee DY, et al. ACVR1 Gene Mutation in Sporadic Korean Patients With Fibrodysplasia Ossificans Progressiva. J Korean Med Sci. 2009;24(3):433-7. PubMed PMID: 19543505.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - ACVR1 gene mutation in sporadic Korean patients with fibrodysplasia ossificans progressiva. AU - Lee,Dong Yeon, AU - Cho,Tae-Joon, AU - Lee,Hye Ran, AU - Park,Moon Seok, AU - Yoo,Won Joon, AU - Chung,Chin Youb, AU - Choi,In Ho, Y1 - 2009/06/12/ PY - 2007/12/29/received PY - 2008/07/11/accepted PY - 2009/6/23/entrez PY - 2009/6/23/pubmed PY - 2009/8/28/medline KW - ACVR1 Gene KW - Mutation Analysis KW - Myositis Ossificans SP - 433 EP - 7 JF - Journal of Korean medical science JO - J Korean Med Sci VL - 24 IS - 3 N2 - Fibrodysplasia ossificans progressiva (FOP; OMIM 135100) is a rare but extremely disabling genetic disorder of the skeletal system, and is characterized by the progressive development of ectopic ossification of skeletal muscles and subsequent joint ankylosis. The c.617G>A; p.R206H point mutation in the activin A type I receptor (ACVR1) gene has been reported to be a causative mutation of FOP. In the present study, mutation analysis of the ACVR1 gene was performed in 12 patients diagnosed or suspected to have FOP. All patients tested had a de novo heterozygous point mutation of c.617G>A; p.R206H in ACVR1. Mutation analysis confirmed a diagnosis of FOP in patients with ambiguous features, and thus, could be used for diagnostic purposes. Early confirmation through mutation analysis would allow medical professionals to advise on the avoidance of provoking events to delay catastrophic flare-ups of ectopic ossifications. SN - 1598-6357 UR - https://www.unboundmedicine.com/medline/citation/19543505/ACVR1_gene_mutation_in_sporadic_Korean_patients_with_fibrodysplasia_ossificans_progressiva_ L2 - https://jkms.org/DOIx.php?id=10.3346/jkms.2009.24.3.433 DB - PRIME DP - Unbound Medicine ER -