ACVR1 突变（c.774G>C，p.R258S）所致进行性骨化性纤维发育不良的诊断挑战：病例报告及文献复习。
Challenges in the diagnosis of fibrodysplasia ossificans progressiva with the ACVR1 mutation (c.774G > C, p.R258S): a case report and review of literature.
机构信息
National Clinical Research Center for Metabolic Diseases, Institute of Metabolism and Endocrinology, Central South University, Hunan Provincial Key Laboratory of Metabolic Bone Diseases, and Department of Metabolism and Endocrinology, The Second Xiangya Hospital of Central South University, 139 Middle Renmin Road, Changsha, Hunan, 410011, China.
出版信息
Orphanet J Rare Dis. 2024 Sep 30;19(1):360. doi: 10.1186/s13023-024-03363-y.
The diagnosis of fibrodysplasia ossificans progressiva is missed or delayed because of its insidious precursors, especially in uncharacteristic cases. Fibrodysplasia ossificans progressiva, which mostly displayed the mutation c.617G > A, p.R206H, is characterized by congenital malformation of the great toe and progressive extra-skeletal ossification of ligaments, tendons and muscles. The mutation c.774G > C, p.R258S (HGVS: NC_000002.11:g.158626896 C > G) in activin A receptor type I is an infrequent etiology of fibrodysplasia ossificans progressiva and can present different clinical features. Awareness of these multiple clinical features will help endocrinologists in the early diagnosis of fibrodysplasia ossificans progressiva. We report a case of fibrodysplasia ossificans progressiva with the activin A receptor type I mutation c.774G > C, p.R258S, which was diagnosed before its ossifying period.
进行性骨化性纤维发育不良的诊断由于其隐匿性前驱症状而被遗漏或延迟，尤其是在非典型病例中。进行性骨化性纤维发育不良主要表现为大脚趾先天性畸形和韧带、肌腱和肌肉的进行性异位骨化，其特征是 c.617G > A，p.R206H 的突变。activin A 受体 I 型中的 c.774G > C，p.R258S（HGVS：NC_000002.11：g.158626896C > G）突变是进行性骨化性纤维发育不良的罕见病因，可表现出不同的临床特征。了解这些多种临床特征将有助于内分泌学家早期诊断进行性骨化性纤维发育不良。我们报告了一例进行性骨化性纤维发育不良伴 activin A 受体 I 型 c.774G > C，p.R258S 突变的病例，该病例在其骨化期之前被诊断出来。
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