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

作　　者：张伟[1] 潘懿[1] 朱晓晓[1] 张克勤[1] 

机构地区：[1]南京医科大学第一附属医院,江苏南京210029

出　　处：《现代生物医学进展》2011年第4期707-710,共4页Progress in Modern Biomedicine

基　　金：院引进人才基金(NO.NA05)

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.1067G>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.1067G>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。Objective：To investigate the ACVR2/ALK2 gene of one FOP patient.Methods：Clinical diagnosis was based on clini-cal and radiological findings.For mutation detection,the blood samples from the FOP patient and his parents were collected with in-formed 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 GA（p.G356D）,which is located in the kinase domain of ACVR1,while the parents had no such muta-tion.Conclusions：The patient had a novel mutation（c.1067GA） 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 patho-genesis of FOP in Chinese patients.

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 

分 类 号：R589.9[医药卫生—内分泌] R68[医药卫生—内科学]