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Mol Syndromol. 2014 Aug;5(5):201-11. doi: 10.1159/000365770. Epub 2014 Aug 7.

Fibrodysplasia ossificans progressiva: clinical course, genetic mutations and genotype-phenotype correlation.

Author information

1
Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.

Abstract

Fibrodysplasia ossificans progressiva (FOP, MIM 135100) is a rare autosomal dominant genetic disorder and the most disabling condition of heterotopic (extraskeletal) ossification in humans. Mutations in the ACVR1 gene (MIM 102576) were identified as a genetic cause of FOP [Shore et al., 2006]. Most patients with FOP have the same recurrent single nucleotide change c.617G>A, p.R206H in the ACVR1 gene. Furthermore, 11 other mutations in the ACVR1 gene have been described as a cause of FOP. Here, we review phenotypic and molecular findings of 130 cases of FOP reported in the literature from 1982 to April 2014 and discuss possible genotype-phenotype correlations in FOP patients.

KEYWORDS:

ACVR1; FOP; Great toe malformations; Heterotopic ossifications; Progressive immobility

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