TY - JOUR
T1 - Fibrodysplasia ossificans progressiva: Clinical course, genetic mutations and genotype-phenotype correlation
AU - Hüning, Irina
AU - Gillessen-Kaesbach, Gabriele
PY - 2014/1/1
Y1 - 2014/1/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84906883828&partnerID=8YFLogxK
U2 - 10.1159/000365770
DO - 10.1159/000365770
M3 - Scientific review articles
AN - SCOPUS:84906883828
SN - 1661-8769
VL - 5
SP - 201
EP - 211
JO - Molecular Syndromology
JF - Molecular Syndromology
IS - 5
ER -
