汉族人群青少年特发性脊柱侧凸家系中存在复合型杂合DOCK9基因突变  

Compound heterozygous DOCK9 gene mutation in adolescent idiopathic scoliosis familiy of Han population

作　　者：张泽瀚 吉喆 姜横[1] 林涛 孟怡辰 周许辉 ZHANG Ze-han;JI Zhe;JIANG Heng;LIN Tao;MENG Yi-chen;ZHOU Xu-hui(Department of Orthopaedics,Changzheng Hospital,Navy Medical University,Shanghai 200003,China;Company 5 of Student Bridge,Basic Medicine College,Navy Medical University,Shanghai 200433,China;Department of Orthopaedics,Xinjiang Uygur Autonomous Region People’s Hospital,Urumqi 831000,Xinjiang Uygur Autonomous,China)

机构地区：[1]海军军医大学附属长征医院骨科,上海200003 [2]海军军医大学基础医学院学员五队,上海200433 [3]新疆维吾尔自治区人民医院骨科中心,新疆维吾尔自治区831000

出　　处：《脊柱外科杂志》2018年第6期349-353,共5页Journal of Spinal Surgery

基　　金：国家自然科学基金(81772305)

摘　　要：目的探讨青少年特发性脊柱侧凸(AIS)家系中可能的致病基因突变。方法对一个汉族AIS家系的3名成员(先证者及其表型正常的父母)进行全基因组测序,筛选潜在的致病基因突变,并通过Sanger测序验证所有发现的突变。结果在AIS家系中发现DOCK9基因存在复合型杂合基因突变c.3259T>C(p.F1087L)和c.2465A>G(p.Y822C)。患者的父母是未出现AIS表型的突变基因携带者,父亲携带c2465A>G突变,而母亲携带c.3259T>C突变。结论复合型杂合DOCK9基因突变可能导致AIS的发生,其在AIS发生机制中的作用有待于进一步探索。Objective To identify genomic mutations in patients with adolescent idiopathic scoliosis(AIS).Methods Whole genome sequencing was performed for3members(proband and her parents with normal phenotypes)in a Chinese family with AIS,so as to identify the genomic mutations.The mutation was checked by Sanger sequencing.Results Two novel compound heterozygous mutations in the DOCK9gene,c.3259T>C(p.F1087L)and c.2465A>G(p.Y822C),were identified in the family.The patient’s parents were unaffected carriers with c.2465A>G(father)and c.3259T>C(mother)mutations.Conclusion Compound heterozygous DOCK9gene mutations may be a cause of AIS.Further studies should be conducted to validate the results and explore the role of DOCK9mutations in the pathogenesis of AIS.

关 键 词：青少年 脊柱侧凸 基因 隐性 点突变 

分 类 号：R682.3[医药卫生—骨科学]