Fibrodysplasia Ossificans Progressiva: Clinical Course, Genetic Mutations and Genotype-Phenotype Correlation

Molecular Syndromology

Gabriele Gillessen-Kaesbach¹  Irina Hüning¹ 

[1] Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany

关键词: ACVR1;    FOP;    Great toe malformations;   
Heterotopic ossifications;    Progressive immobility;   

DOI  :  10.1159/000365770

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

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.

【 授权许可】

Unknown