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ACVR1 gene mutation in sporadic Korean patients with fibrodysplasia ossificans progressiva.


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.

SUBMITTER: Lee DY 

PROVIDER: S-EPMC2698188 | biostudies-literature | 2009 Jun

REPOSITORIES: biostudies-literature

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ACVR1 gene mutation in sporadic Korean patients with fibrodysplasia ossificans progressiva.

Lee Dong Yeon DY   Cho Tae-Joon TJ   Lee Hye Ran HR   Park Moon Seok MS   Yoo Won Joon WJ   Chung Chin Youb CY   Choi In Ho IH  

Journal of Korean medical science 20090612 3


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 susp  ...[more]

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