[P3-147] De novo 617G-A nucleotide mutation in the ACVR1 gene in an Indonesian patient with fibrodysplasia ossificans progressiva
Fibrodysplasia Ossificans Progressiva (FOP) is a rare an autosomal dominant disease with complete penetrance involving the progressive ossification of the skeletal muscles, fasciae, tendons and ligaments. Individuals with FOP appear normal at birth except for great toes abnormalities. Periodic acute episodes of myositis, endochondral ossification of striated muscles generally begins in the occipital, cervical and upper paraspinal muscles and later affects most muscles around the major joints. FOP is associated mutations within the ACVR1 gene.
We report the case of 17-year-old boy with stiffness that appeared gradually on parts of body. This is the first report of the results of a mutation analysis in asporadic case of FOP in Indonesia. The diagnosis was confirmed by genetic study that demonstrated a mutation in ACVR1 located on nucleotide 617 or codon 206 (R206H). His parents were normal clinically sugesting that a de novo mutation in the ACVR1 gene is responsible for the disease in this child.
Keywords: Fibrodysplasia Ossificans Progressiva, Activin receptor type 1A (ACVR1)
We report the case of 17-year-old boy with stiffness that appeared gradually on parts of body. This is the first report of the results of a mutation analysis in asporadic case of FOP in Indonesia. The diagnosis was confirmed by genetic study that demonstrated a mutation in ACVR1 located on nucleotide 617 or codon 206 (R206H). His parents were normal clinically sugesting that a de novo mutation in the ACVR1 gene is responsible for the disease in this child.
Keywords: Fibrodysplasia Ossificans Progressiva, Activin receptor type 1A (ACVR1)