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Article

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

PloS one - 1 Jan 2009

Petrie Kirsten A, Lee Wen Hwa, Bullock Alex N, Pointon Jenny J, Smith Roger, Russell R Graham G, Brown Matthew A, Wordsworth B Paul, Triffitt James T

Abstract excerpt

Fibrodysplasia Ossificans Progressiva (FOP) is a rare, heritable condition typified by progression of extensive ossification within skeletal muscle, ligament and tendon together with defects in skeletal development. The condition is easily diagnosed by the presence of shortened great toes and the...

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Source

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Identifiers

PMID: 19330033
DOI: 10.1371/journal.pone.0005005
PMCID: PMC2658887

Genes

ACVR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19330033-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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

Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.Semantic proximity Read ↗

A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene.Semantic proximity Read ↗

Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients.Semantic proximity Read ↗

Fibrodysplasia Ossificans Progressiva: Clinical Course, Genetic Mutations and Genotype-Phenotype CorrelationSemantic proximity Read ↗

A unique case of fibrodysplasia ossificans progressiva with an <i>ACVR1</i> mutation, G356D, other than the common mutation (R206H)Semantic proximity Read ↗

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.Semantic proximity Read ↗

ACVR1 (587T>C) mutation in a variant form of fibrodysplasia ossificans progressiva: second report.Semantic proximity Read ↗

A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date.Semantic proximity Read ↗

ACVR1 gene mutation in sporadic Korean patients with fibrodysplasia ossificans progressiva.Semantic proximity Read ↗

An ACVR1R375P pathogenic variant in two families with mild fibrodysplasia ossificans progressiva.Semantic proximity Read ↗

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.Semantic proximity Read ↗

Fibrodysplasia ossificans progressiva: three Indian patients with mutation in the ACVR1 gene.Semantic proximity Read ↗

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