中华骨质疏松和骨矿盐疾病杂志2018，Vol.11Issue(3)：224-232,9.DOI:10.3969/j.issn.1674-2591.2018.03.002
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
Identification of WISP3 gene mutation in four families with progressive pseudorheumatoid dysplasia
摘要
Abstract
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.关键词
进行性假性类风湿样骨发育不良/WISP3基因/突变Key words
progressive pseudorheumatoid dysplasia/WISP3 gene/mutation分类
医药卫生引用本文复制引用
胡伟伟,章振林..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[J].中华骨质疏松和骨矿盐疾病杂志,2018,11(3):224-232,9.基金项目
国家自然科学基金 (81400852) （81400852）
上海市卫生和计划生育委员会科研课题 (20144Y0127) （20144Y0127）
