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ACVR1 Gene Mutation in Sporadic Korean Patients with Fibrodysplasia Ossificans Progressiva

Cited 14 time in Web of Science Cited 13 time in Scopus
Authors
Lee, Dong Yeon; Cho, Tae-Joon; Lee, Hye Ran; Park, Moon Seok; Chung, Chin Youb; Choi, In Ho; Yoo, Won Joon
Issue Date
2009-06
Publisher
KOREAN ACAD MEDICAL SCIENCES
Citation
JOURNAL OF KOREAN MEDICAL SCIENCE; Vol.24(3); 433-437
Keywords
Myositis OssificansMutation AnalysisACVR1 Gene
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.
ISSN
1011-8934
Language
English
URI
https://hdl.handle.net/10371/78427
DOI
https://doi.org/10.3346/jkms.2009.24.3.433
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College of Medicine/School of Medicine (의과대학/대학원)Orthopedic Surgery (정형외과학전공)Journal Papers (저널논문_정형외과학전공)
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