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首页> 美国卫生研究院文献>Case Reports in Genetics >Sporadic Fibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G A Mutation in ACVR1 Gene: A Case Report and Review of Literature
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Sporadic Fibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G A Mutation in ACVR1 Gene: A Case Report and Review of Literature

机译：埃及c.617G婴儿偶发性纤维增生症 ACVR1基因突变：一例病例报告并文献复习

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Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant severe musculoskeletal disease characterized by extensive new bone formation within soft connective tissues and unique skeletal malformations of the big toes which represent a birth hallmark for the disease. Most of the isolated classic cases of FOP showed heterozygous mutation in the ACVR1 gene on chromosome 2q23 that encodes a bone morphogenetic protein BMP (ALK2). The most common mutation is (c.617G > A) leading to the amino acid substitution of arginine by histidine (p.Arg206His). We currently report on an Egyptian infant with a sporadic classic FOP in whom c.617G > A mutation had been documented. The patient presented with the unique congenital malformation of big toe and radiological evidence of heterotopic ossification in the back muscles. The triggering trauma was related to the infant's head, however; neither neck region nor sites of routine intramuscular vaccination given during the first year showed any ossifications. Characterization of the big toe malformation is detailed to serve as an early diagnostic marker for this rare disabling disease.
机译：骨化性纤维增生症（FOP）是一种常染色体显性遗传的严重肌肉骨骼疾病，其特征在于软结缔组织内广泛的新骨形成以及大脚趾的独特骨骼畸形，代表该疾病的出生标志。大多数孤立的典型FOP病例在2q23号染色体上的ACVR1基因中显示出杂合突变，该基因编码骨形态发生蛋白BMP（ALK2）。最常见的突变是（c.617G> A），导致组氨酸（p.Arg206His）取代精氨酸。目前，我们报道了一名埃及婴儿，其散发性经典FOP，其中c.617G>发生突变。该患者表现出独特的先天性大脚趾畸形和放射学证据表明背部肌肉异位骨化。然而，引发创伤与婴儿的头部有关。在第一年中，颈部区域和常规肌内疫苗接种部位均未显示任何骨化。详细描述了大脚趾畸形的特征，可以作为这种罕见的致残性疾病的早期诊断标记。

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