发作性过度运动诱发性运动障碍一家系临床及基因突变分析  

Clinical and gene mutation analysis of paroxysmal exercise-induced dyskinesia in one family

作　　者：胡恕香 李培[1] 王央丹 黄种钦 HU Shuxiang;LI Pei;WANG Yangdan;HUANG Zhongqin(Women and Children’s Hospital,School of Medicine,Xiamen University Xiamen Maternal and Child Health Care Hospital,Xiamen 361003,Fujian,China)

机构地区：[1]厦门大学附属妇女儿童医院厦门市妇幼保健院,福建厦门361003

出　　处：《临床儿科杂志》2020年第10期765-768,共4页Journal of Clinical Pediatrics

摘　　要：目的探讨发作性过度运动诱发性运动障碍(PED)的临床表现及SLC2A1基因变异。方法收集先证者及其家系成员临床资料,对先证者基因组DNA行高通量测序,对先证者及其家系成员的SLC2A1基因特定编码区经聚合酶链反应扩增后行一代测序验证。结果先证者,男性,11岁;8岁起运动后出现运动障碍。基因测序发现先证者SLC2A1基因第7外显子存在c.940G>A(p.Gly 314 Ser)杂合变异。通过美国医学遗传学与基因组学学会(ACMG)指南致病性分析证实为致病位点。先证者之弟弟、父亲、姑姑均存在与其相同的杂合变异;其中先证者弟弟表现为癫痫;父亲和姑姑也表现为PED。结论明确该家系SLC2A1基因变异与遗传特征,新发现变异位点c.940G>A(p.Gly 314 Ser),丰富了SLC2A1基因变异谱。Objective To explore the clinical manifestations and SLC2A1 gene mutation in paroxysmal exercise-induced dyskinesia(PED).Methods The clinical data of the proband and his families were collected.The genomic DNA of the proband was sequenced by high-throughput sequencing.The specific coding region on SLC2A1 gene of the proband and his families were amplified by polymerase chain reaction and verified by the first-generation sequencing.Results The proband was an 11-yearold male who developed dyskinesia after exercising at the age of 8.Gene sequencing showed that the proband had heterozygous variation of c.940 G>A(p.Gly 314 Ser)in exon 7 of SLC2A1 gene.It was confirmed as the pathogenic site by pathogenicity analysis according to the guidelines of American College of Medical Genetics and Genomics(ACMG).The younger brother,father,and aunt of the proband all had the same heterozygous mutation as the proband.The younger brother of the proband manifested epilepsy.His father and aunt also manifested PED.Conclusion The SLC2A1 gene mutation and genetic characteristics of the family were clarified,and the newly discovered mutation site of c.940 G>A(p.Gly 314 Ser)enriched the SLC2A1 gene mutation spectrum.

关 键 词：发作性过度运动诱发性运动障碍 临床表现 SLC2A1基因 

分 类 号：R741[医药卫生—神经病学与精神病学]