89例发作性运动诱发性肌张力障碍的临床和遗传学分析  

Clinical and genetic analysis of paroxysmal kinesigenic dyskinesia in Chinese

作　　者：柳青[1,2] 郭夏楠[2,3,4] 崔博[1] 周祥琴[1] 卢强[1] 杨英麦[1] 王含[1] 黄颜[1] 万新华[1] 彭斌[1] 张学[2,3,4] 崔丽英[1,2] 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院神经科,北京100730 [2]中国医学科学院神经科学中心,北京100005 [3]中国医学科学院北京协和医学院北京协和医院临床遗传室,北京100005 [4]中国医学科学院北京协和医学院基础医学研究所遗传学系,北京100005

出　　处：《中风与神经疾病杂志》2015年第12期1081-1083,共3页Journal of Apoplexy and Nervous Diseases

摘　　要：目的探讨发作性运动诱发性肌张力障碍(PKD)/婴儿痉挛及手足徐动症(ICCA)患者PRRT2突变分布、基因型-表型关系。方法收集我中心诊断家族性或散发性PKD/ICCA患者共89例,应用Sanger测序筛查PRRT2编码外显子和外显子-内含子交界区,新突变在父母DNA和164例正常对照DNA中验证。结果本组病例男女比例3∶1,家族性PKD/ICCA占31.5%。共37.1%(33人)查到PRRT2突变,c.649dup C(p.R217Pfs*8)占全部突变的69.7%;在1例散发PKD发现一个新突变,c.959C>T(p.A320V)。PRRT2突变组平均起病年龄(11.52±4.17)岁,无突变组(14.34±3.55)岁,两组比较有明显差异(P=0.005),发作时间和发作时症状分布两组均无明显差异。结论 c.649dup C突变是中国汉族PKD/ICCA患者最常见突变;发现的一个新突变扩大了PRRT2突变谱;PRRT2突变患者平均起病年龄较无突变早。Objective To investigate mutation spectrum of PRRT2 in Chinese patients with paroxysmal kinesigenic dyskinesia （PKD）/infantile convulsions with choreoathetosis syndrome （ICCA）. Methods We recruited 89 patients diagnosed as PKD/ICCA in our center. PRRT2 was screened by Sanger sequencing. Results In the current cohort, familial PKD/ICCA accounted for 31.5% （28 cases） and the sex ratio of male to female was 3： 1. Altogether,37.1% cases were carrying PRRT2 mutations and c. 649dupC accounted for 69.7% of total mutations. A novel mutation, c. 959C 〉 T （ p. A320V） was identified in a sporadic PKD patients which was not detected in 164 controls. When disease characteristics were compared in between patients with and without PRRT2 mutations, the average onset age was （ 11.52 ±4.17 ） years and （ 14.34 ±3.55 ） years,respectively,with significant difference observed （P = 0. 005 ）. Conclusion The c. 649dupC mutation in PRRT2 was most prevalent in Chinese PKD/ICCA cases. A novel mutation identified expanded PRRT2 mutation spectrum. Patients with PRRT2 mutation had an earlier age at onset compared with those holding no mutations.

关 键 词：肌张力障碍 PRRT2 婴儿痉挛及手足徐动症 突变 基因型-表型 

分 类 号：R746[医药卫生—神经病学与精神病学]