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首页> 美国卫生研究院文献>Case Reports in Genetics >An Activin Receptor IA/Activin-Like Kinase-2 (R206H) Mutation in Fibrodysplasia Ossificans Progressiva
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An Activin Receptor IA/Activin-Like Kinase-2 (R206H) Mutation in Fibrodysplasia Ossificans Progressiva

机译：骨化性增生中的激活素受体IA /激活素样激酶2（R206H）突变。

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摘要

Fibrodysplasia ossificans progressiva (FOP) is an exceptionally rare genetic disease that is characterised by congenital malformations of the great toes and progressive heterotopic ossification (HO) in specific anatomical areas. This disease is caused by a mutation in activin receptor IA/activin-like kinase-2 (ACVR1/ALK2). A Mexican family with one member affected by FOP was studied. The patient is a 19-year-old female who first presented with symptoms of FOP at 8 years old; she developed spontaneous and painful swelling of the right scapular area accompanied by functional limitation of movement. Mutation analysis was performed in which genomic DNA as PCR amplified using primers flanking exons 4 and 6, and PCR products were digested with Cac8I and HphI restriction enzymes. The most informative results were obtained with the exon 4 flanking primers and the Cac8I restriction enzyme, which generated a 253 bp product that carries the ACVR1 617G>A mutation, which causes an amino acid substitution of histidine for arginine at position 206 of the glycine-serine (GS) domain, and its mutation results in the dysregulation of bone morphogenetic protein (BMP) signalling that causes FOP.
机译：骨化性纤维增生症（FOP）是一种极为罕见的遗传病，其特征是先天性脚趾畸形和特定解剖区域进行性异位骨化（HO）。该疾病是由激活素受体IA /激活素样激酶2（ACVR1 / ALK2）突变引起的。研究了一个受FOP影响的墨西哥家庭。该患者是一名19岁的女性，最初在8岁时出现FOP症状。她出现了右肩developed骨区域的自发性疼痛疼痛，并伴有运动功能受限。进行突变分析，其中使用外显子4和6侧翼的引物扩增作为PCR的基因组DNA，并用Cac8I和HphI限制酶消化PCR产物。使用外显子4侧翼引物和Cac8I限制性内切酶可获得最有益的结果，该酶产生253 bp的产物，携带ACVR1 617G> A突变，该突变导致组氨酸被甘氨酸的206位氨基酸取代为精氨酸。丝氨酸（GS）域及其突变导致导致FOP的骨形态发生蛋白（BMP）信号传导异常。

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