ACVR1 基因突变（c.774G > C, p.R258S）导致的渐进性骨化性纤维增生症的诊断难题：病例报告和文献综述。

IF 3.4 2区医学 Q2 GENETICS & HEREDITY

Orphanet Journal of Rare Diseases Pub Date : 2024-09-30 DOI:10.1186/s13023-024-03363-y

Siqi Yang, Rongrong Cui, Jialin Li, Ruchun Dai

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引用次数: 0

摘要

进展性骨质纤维增生症的诊断因其隐匿的先兆而被漏诊或延误，特别是在非典型病例中。渐进性骨化性纤维增生症（Fibrodysplasia ossificans progressiva）主要表现为 c.617G > A, p.R206H突变，其特征是大脚趾先天性畸形以及韧带、肌腱和肌肉的渐进性骨骼外骨化。激活素 A 受体 I 型突变 c.774G > C，p.R258S（HGVS：NC_000002.11:g.158626896 C > G）是进展性骨化性纤维增生症的一种不常见的病因，可表现出不同的临床特征。对这些多重临床特征的认识将有助于内分泌专家对渐冻人纤维性骨质增生症进行早期诊断。我们报告了一例患有激活素 A 受体 I 型突变 c.774G > C, p.R258S的进行性骨化性纤维增生症患者，该患者在骨化期之前就被确诊。

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

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.

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来源期刊

Orphanet Journal of Rare Diseases 医学-医学：研究与实验

CiteScore

6.30

自引率

8.10%

发文量

418

审稿时长

4-8 weeks

期刊介绍： Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.