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Article

A recurrent mutation c.617G>A in the ACVR1 gene causes fibrodysplasia ossificans progressiva in two Chinese patients.

Calcified tissue international - 1 May 2009

Sun Yue, Xia Weibo, Jiang Yan, Xing Xiaoping, Li Mei, Wang Ou, Zhang Huabing, Hu Yingying, Liu Huaicheng, Meng Xunwu, Zhou Xueying

Abstract excerpt

Fibrodysplasia ossificans progressiva (FOP; OMIM 135100) is a rare heritable disorder of connective tissue characterized by congenital malformations of the great toes and recurrent episodes of painful soft tissue swelling that lead to heterotopic ossifications. Recent studies have shown that the ACVR1 (activin A receptor, type I; OMIM 102576) gene, which encodes the BMP type I receptor protein, is responsible for...

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Source

Identifiers

PMID: 19300893
DOI: 10.1007/s00223-009-9235-9

Genes

ACVR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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A recurrent mutation c.617G>A in the ACVR1 gene causes fibrodysplasia ossificans progressiva in two Chinese patients.PMID 19300893Read ↗

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

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

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

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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 ↗

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

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