Xcode Life

Condition: Fibrodysplasia Ossificans Progressiva

rs121912678 in ACVR1 gene and Fibrodysplasia Ossificans Progressiva

PMID 16642017 2006 We mapped FOP to chromosome 2q23-24 by linkage analysis and identified an identical heterozygous mutation (617G --> A; R206H) in the glycine-serine (GS) activation domain of ACVR1, a BMP type I receptor, in all affected individuals examined.

PMID 19330033 2009 FOP has been shown to result from a point mutation (c.617G>A) in the ACVR1 gene in almost all patients reported.

PMID 19085907 2009 While the recurrent c.617G>A; p.R206H mutation was found in all cases of classic FOP and most cases of FOP-plus, novel ACVR1 mutations occur in the FOP variants and two cases of FOP-plus.

PMID 19085907 2009 Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.

PMID 16642017 2006 A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.

PMID 19330033 2009 Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.

PMID 22977237 2012 Structure of the bone morphogenetic protein receptor ALK2 and implications for fibrodysplasia ossificans progressiva.

PMID 19330033 2009 We present here evidence for two further unique mutations (c.605G>T and c.983G>A) in this gene in two FOP patients with some atypical digit abnormalities and other clinical features.

PMID 19330033 2009 We present here evidence for two further unique mutations (c.605G>T and c.983G>A) in this gene in two FOP patients with some atypical digit abnormalities and other clinical features.