Fibrodysplasia ossificans progressiva: clinical course, genetic mutations and genotype-phenotype correlation
I Hüning, G Gillessen-Kaesbach - Molecular syndromology, 2014 - karger.com
I Hüning, G Gillessen-Kaesbach
Molecular syndromology, 2014•karger.comFibrodysplasia 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 …
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 …
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.
Karger