Fibrodysplasia ossificans progressiva, an ultra-rare and disabling genetic disorder of skeletal malformations and progressive heterotopic ossification (HO), is the most catastrophic condition of skeletal metamorphosis in humans. We studied 72 patients with FOP in China and analyzed their phenotypes and genotypes comprising the world’s largest ethnically homogeneous population of FOP patients. Ninety-nine percent of patients (71/72 cases) were of Han nationality; one percent of patients (1/72 cases) were of Hui nationality. Based on clinical examination, ninety-two percent of patients (66/72 cases) had classic FOP; four percent of patients (3/72 cases) were FOP-plus, and four percent of patients (3/72) were FOP variants. Importantly, all individuals with FOP had mutations in the protein-coding region of Activin A Receptor, Type I/Activin-like kinase 2 (ACVR1/ALK2). Ninety-seven percent of FOP patients (70/72 cases) had the canonical c.617G>A (p.R206H) mutation, while three percent of FOP patients (2/72 cases) had variant mutations in ACVR1/ALK2. Taken together, the genotypes and phenotypes of individuals with FOP from the Han nationality in China are similar to those reported elsewhere and supports the fidelity of this ultra-rare disorder in the world’s most highly populated nation and across wide racial, ethnic, gender and geographic distributions.
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