四例骨斑点症临床特点分析和LEMD3基因突变检测  

Clinical features and identification of LEMD3 gene mutation in 4 osteopoikilosis patients

作　　者：李默茹 高飞[1] 魏占英[2] 胡伟伟[2] 章振林[2] 

机构地区：[1]山西医科大学第一医院内分泌科,太原030001 [2]上海交通大学附属第六人民医院骨质疏松和骨病专科,200233

出　　处：《中华内分泌代谢杂志》2017年第5期402-407,共6页Chinese Journal of Endocrinology and Metabolism

基　　金：国家自然科学基金（81370978）;上海市科委重点项目（14JC1405000）;上海市卫计委项目（20144Y0127）;上海市卫计委项目（20164Y0062）

摘　　要：目的分析4例骨斑点症患者的临床特点并检测LEMD3（LAP2-emenn．MAN1 domaincontaining protein3）基因突变。方法收集诊断为骨斑点症患者的临床资料，并提取外周血基因组DNA，进行LEMD3基因突变检测。结果4例患者分别为44岁男性、42岁女性、26岁男性、21岁女性，均来自非近亲婚配家庭，体检发现X线摄片异常或关节疼痛就诊。骨转换生化指标均未见异常。X线检查表现为骨内多发边缘清晰、密度均匀的小圆形或卵圆形的钙化点，大小不一。LEMD3基因突变检测结果显示，1例患者在1号外显子上发生一个杂合缺失突变（缺失1个碱基G），即e．595de1lG（NM014319．4），导致PAla199ProfsX46，其父亲和母亲无该突变，其他3例患者均未发现LEMD3基因突变。结论发现导致骨斑点症发病的LEMD3基因新突变，提示中国人与西方人群有相似的发病分子基础。Objective To analyze the clinical features and the mutation of LEMD3 gene in four osteopoikilosis patients. Methods Clinical data of 4 patients were collected, peripheral blood samples were obtained for DNA extract, and LEMD3 gene mutation was analyzed by direct DNA sequencing. Results 4 patients with osteopoikilosis included a male aged 44, a female aged 42, a 26-year-old male, a 21-year-old female. All these patients were from families of non-consanguineous marriage. The main complaint of these patients was pain on arthrosis. Abnormal X-ray radiography was found in medical examination, while markers of bone metabolism were normal. The results of X-ray examination showed that numerous, discrete round or ovoid calcification were scattered throughout the wrist, pelvis and scapula. A de novo mutation c. 595delG（ NM 014319.4） localized in exonl of the LEMD3 gene resulting in p. Ala199ProfsX46 of Case 3, while the mutation is not found in his parents and the remaining 3 patients. Conclusions A de novol LEMD3 mutation led to osteopoikilosis was found, and the pathogenesis of molecular mechanism in Chinese remained further exploration.

关 键 词：骨斑点症 基因突变 LEMD3基因 

分 类 号：R68[医药卫生—骨科学]