Department of Medical Genetics, National Institute of Health, 27 Avenue Ibn Batouta, BP 769, 11400, Rabat, Morocco.
Clin Rheumatol. 2010 Jan;29(1):119-21. doi: 10.1007/s10067-009-1283-z. Epub 2009 Oct 1.
Fibrodysplasia ossificans progressiva (FOP, MIM 135100) is a rare autosomal dominant disorder characterized by postnatal progressive heterotopic ossification of the connective tissue and congenital malformation of the big toes. Recently, FOP has been associated with a specific mutation of ACVR1, the gene coding for a bone morphogenetic protein type I receptor. We report the case of a Moroccan patient with FOP carrying a rarely occurring mutation of ACVR1 gene.
进行性骨化性纤维发育不良（FOP，MIM 135100）是一种罕见的常染色体显性遗传疾病，其特征是出生后结缔组织的进行性异位骨化和大脚趾的先天性畸形。最近，FOP 与 ACVR1 基因的特定突变有关，该基因编码骨形态发生蛋白 I 型受体。我们报告了一例携带 ACVR1 基因突变的摩洛哥 FOP 患者。
