EXT1基因突变导致遗传性多发性骨软骨瘤1例并文献复习  

A Case of Hereditary Multiple Osteochondroma Caused by EXT1 Gene Mutation and Literature Review

作　　者：贾海亭 李麒麟 于嘉智 王春华 刘涛 刘毅 孙琳[3] JIA Haiting;LI Qilin;YU Jiazhi;WANG Chunhua;LIU Tao;LIU Yi;SUN Lin(Department of Orthopedic Trauma Surgery,Qilu Children′s Hospital,Shandong University,Jinan 250022,China;Pediatric Research Institute,Qilu Children′s Hospital,Shandong University,Jinan 250022,China;Department of Orthopedics,Beijing Children′s Hospital,Capital Medical University,Beijing 100045,China)

机构地区：[1]山东大学齐鲁儿童医院骨科创伤外科,济南250022 [2]山东大学齐鲁儿童医院儿研所,济南250022 [3]首都医科大学附属北京儿童医院骨科,北京100045

出　　处：《医学综述》2022年第10期2075-2080,共6页Medical Recapitulate

摘　　要：目的对1例遗传性多发性骨软骨瘤患儿进行遗传学分析,探讨其分子遗传学病因。方法抽取患儿及其父母外周血进行遗传性骨病综合基因检测,并对患儿及其父母进行一代测序验证。结果基因检测显示EXT1基因c.1469delT杂合突变,导致其编码的蛋白从第490位开始翻译到第9位氨基酸时发生提前终止,预期对其正常功能有重要影响,母亲携带该致病基因,但无临床表型。结论EXT1基因c.1469delT杂合突变是遗传性多发性骨软骨瘤的遗传性病因,结果可用于遗传咨询。Objective To investigate the genetic etiology of a child with multiple osteochondroma through genetic analysis.Methods Peripheral blood was extracted for genetic bone disease comprehensive genetic testing,and first-generation sequencing was performed on the child and his parents.Results Genetic test showed heterozygous mutation of EXT1 gene c.1469delT,resulting in early termination of the protein encoded by EXT1 when it was translated from the 490th position to the 9th amino acid,which was expected to have an important impact on its normal function.The mother carried this pathogenic gene,but no clinical phenotype.Conclusion Heterozygous mutation of the EXT1 gene c.1469delT is an inherited etiology of inherited multiple osteochondroma,and the results can be used for genetic counseling.

关 键 词：遗传性多发性骨软骨瘤 EXT1基因 一代测序 

分 类 号：R738.3[医药卫生—肿瘤]