ACVR1 gene mutation in sporadic Korean patients with fibrodysplasia ossificans progressiva.
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.
Lee
Dong Yeon
DY
Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul, Korea.
Cho
Tae-Joon
TJ
Lee
Hye Ran
HR
Park
Moon Seok
MS
Yoo
Won Joon
WJ
Chung
Chin Youb
CY
Choi
In Ho
IH
D030201:Activin Receptors, Type I / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007723:Korea; D008297:Male; D009221:Myositis Ossificans / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D017354:Point Mutation; D011859:Radiography; D055815:Young Adult
C425423:ACVR1 protein, human; D030201:Activin Receptors, Type I