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

doi:10.3969/j.issn.1000-3606.2020.10.011

临床儿科杂志 ›› 2020, Vol. 38 ›› Issue (10): 765-.doi: 10.3969/j.issn.1000-3606.2020.10.011

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

胡恕香, 李培, 王央丹, 黄种钦

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）

出版日期:2020-10-15 发布日期:2020-10-10

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

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

Online:2020-10-15 Published:2020-10-10

摘要/Abstract

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. Gly314Ser）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. Gly314Ser），丰富了 SLC2A1基因变异谱。

关键词: 发作性过度运动诱发性运动障碍；临床表现； SLC2A1基因

Abstract: 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.?940G>A?(p.?Gly314Ser)?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.?940G>A?(p.?Gly314Ser)?enriched?the?SLC2A1 gene mutation spectrum.

Key words: 　paroxysmal exercise-induced dyskinesia; clinical manifestation; SLC2A1 gene

胡恕香，李培，王央丹，等. 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[J]. 临床儿科杂志, 2020, 38(10): 765-.

HU Shuxiang, LI Pei, WANG Yangdan, et al. Clinical and gene mutation analysis of paroxysmal exercise-induced dyskinesia in one family[J]. Journal of Clinical Pediatrics, 2020, 38(10): 765-.

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

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