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进行性假性类风湿样骨发育不良四个家系WISP3基因突变筛查 被引量:2

Identification of WISP3 gene mutation in four families with progressive pseudorheumatoid dysplasia
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摘要 目的观察进行性假性类风湿样骨发育不良(progressive pseudorheumatoid dysplasia,PPD)患者的临床特征及影像学表现,并筛查致病基因WISP3的突变类型。方法抽取所有受试对象的静脉血5 m L,抗凝保存于-80℃冰箱,利用常规方法抽提基因组DNA。使用Sanger测序技术对4个家系的先证者致病基因WISP3进行检测,再对其父母亲进行突变位点检测。结果 4个家系先证者中均发现WISP3基因纯合突变或复合杂合突变,其中家系1中的突变位点p.Cys209Metfs X21、家系2突变位点p.Tyr116X、家系3突变位点p.Cys114Trp和家系4的突变位点p.Cys223Gly均为首次报道的新发现位点。结论 PPD是一种少见的常染色体隐性遗传性疾病,临床特点及典型的影像学表现有助于诊断。首次发现了WISP3基因4个新突变位点,开展WISP3基因检测有助于PPD确诊。 Objective To observe the clinical features and imaging manifestations of spondyloepiphyseal dyspla-sia tarda with progressive pseudorheumatoid dysplasia (PPD) and to screen the mutation of WISP3 gene which causes the disease. Methods Blood samples of all subjects were extracted and preserved, and genomic DNA was extracted by rou-tine method. WISP3 gene was sequenced by Sanger sequencing in the probands, and then mutation of WISP3 gene were detected in their parents. Results Homozygous mutation or compound heterozygous mutation in WISP3 gene was found in all probands of 4 families. Among them, the proband was identified carrying a novel mutation ( p. Cys209MetfsX21) in family 1. Mutation p. Tyr116X in family2, p. Cys114Trp in family 3, p. Cys223Gly in family 4 were also reported for the first time. Conclusion PPD is a rare autosomal recessive genetic disorder. Clinical features and typical imaging findings are helpful for the diagnosis. Four novel mutation in WISP3 gene were discovered for the first time, and the detection of WISP3 gene was helpful in the diagnosis of PPD.
作者 胡伟伟 章振林 HU Wei-wei;ZHANG Zhen-lin(Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Disease, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, Chin)
出处 《中华骨质疏松和骨矿盐疾病杂志》 CSCD 北大核心 2018年第3期224-232,共9页 Chinese Journal Of Osteoporosis And Bone Mineral Research
基金 国家自然科学基金(81400852) 上海市卫生和计划生育委员会科研课题(20144Y0127)
关键词 进行性假性类风湿样骨发育不良 WISP3基因 突变 progressive pseudorheumatoid dysplasia WISP3 gene mutation
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