Challenges in the diagnosis of fibrodysplasia ossificans progressiva with the ACVR1 mutation (c.774G > C, p.R258S): a case report and review of literature

被引：0

作者：

Yang, Siqi ^{[1
,2
]}

Cui, Rongrong ^{[1
,2
]}

Li, Jialin ^{[1
,2
]}

Dai, Ruchun ^{[1
,2
]}

机构：

[1] Cent South Univ, Inst Metab & Endocrinol, Natl Clin Res Ctr Metab Dis, Hunan Prov Key Lab Metab Bone Dis, 139 Middle Renmin Rd, Changsha 410011, Hunan, Peoples R China

[2] Cent South Univ, Xiangya Hosp 2, Dept Metab & Endocrinol, 139 Middle Renmin Rd, Changsha 410011, Hunan, Peoples R China

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2024年 / 19卷 / 01期

关键词：

Fibrodysplasia ossificans progressiva; Mutation; Early diagnosis; TGF-BETA RECEPTOR; ACTIVATION; CELLS; GENE;

D O I：

10.1186/s13023-024-03363-y

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：10

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