| 张伟潘懿朱晓晓张克勤△.进行性骨化性纤维増殖不良症临床及基因突变分析[J].,2011,11(4):707-710 |
| 进行性骨化性纤维増殖不良症临床及基因突变分析 |
| Novel Mutation G356D in ACVR1 in Fibrodysplasia Ossificans Progressive:Analysis of one case |
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| DOI： |
| 中文关键词: 进行性骨化性纤维増殖不良症 骨形态发生蛋白 异位骨化 突变 |
| 英文关键词: Fibrodysplasia ossificans progressive Bone morphogenetic protein Heterotopic ossification Mutation |
| 基金项目:院引进人才基金（NO.NA05） |
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| 中文摘要: |
| 目的：研究一例具有超经典型临床特征的FOP患者，并对其ACVR1/ALK2基因进行分析。方法：根据患者的大踇趾畸形和
进行性异位骨化等表现进行临床诊断，确诊为FOP。经患者及家属同意，采集患者、父母外周血，提取DNA，通过PCR扩增并直接
测序测定ACVR1基因全部外显子序列，以此来确定突变位点。结果：患者具有超经典型FOP的临床表现：先天性大踇趾畸形，先
天性双手拇指、食指远端关节僵直和进行性异位骨化，父母无FOP的相关临床表现。基因测序分析示该患者在ACVR1第七外显
子发现存在c.1067 G>A (p.G356D)杂合错义突变，而其父母无此杂合突变。结论：该患者在ACVR1的c.1067 G>A (p.G356D)发生
杂合错义突变，这有助于我们更好地理解认识中国FOP患者的临床表现和发病机制。 |
| 英文摘要: |
| Objective: To investigate the ACVR2/ALK2 gene of one FOP patient. Methods: Clinical diagnosis was based on clinical
and radiological findings. For mutation detection, the blood samples from the FOP patient and his parents were collected with informed
consent. Genomic DNA was isolated from peripheral lymphocytes and all the exons of ACVR1 were amplified by PCR. The PCR
products were sequenced. Results: The patient had congenital malformations of the great toes and congenital ankylosis of the thumbs and
index fingers with both hands. Heterotopic ossification was proved by radiographic evidence of at the time of evaluation. The patient had
a heterozygous mutation, c.1067 G>A (p.G356D), which is located in the kinase domain of ACVR1, while the parents had no such mutation.
Conclusions: The patient had a novel mutation (c.1067G>A) in ACVR1, which was confirmed by direct sequencing. As the first
case reported in a Chinese patient with such de novo mutation, these results were useful to understand the clinical symptoms and pathogenesis
of FOP in Chinese patients. |
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