肌阵挛-肌张力障碍综合征一家系的临床特点及分子遗传学分析

摘要

Objective To summarize the clinical and the molecular genetic characteristics of type DYT11 dystonia by analyzing the clinical data and pathogenic gene mutation of type DYT11 dystonia of a myoclonus-dystonia syndrome (MDS) family.Methods A MDS family enrolled in the General Hospital of the People's Liberation Army Rocket Force in January 2018 was retrospectively analyzed.The clinical data of 11 affected family members were collected and genetic testing of four affected family members (including the proband) of the MDS family was conducted using a panel of dystonia-associated genes.Results The affected family members showed great differences in clinical characteristics and obvious clinical heterogeneity.Four affected family members had myoclonus and dystonia,two affected family members only had myoclonus and five affected family members only had dystonia.The results of genetic testing showed that the proband,his father and his grandfather had a mutation (c.835_839delACAAA) in SGCE gene,which is autosomal dominant and belongs to type DYT11 dystonia.Conclusions MDS shows clinical heterogeneity.Gene screening is of great importance for the diagnosis and treatment of dystonia with myoclonus.%目的 通过回顾性分析肌阵挛-肌张力障碍综合征(MDS)中DYT11型肌张力障碍患者的临床资料和致病基因突变类型,总结DYT11型肌张力障碍的临床特点和分子遗传学特点.方法 回顾性分析火箭军总医院2018年1月收治的一MDS家系,对该家系52人中的11名发病成员进行临床资料收集、总结,对该家系中包括先证者在内的4名发病成员进行肌张力障碍相关基因检测.结果 该家系发病成员的临床特点差异较大,存在明显的临床症状异质性,其中4名发病成员表现为肌阵挛合并肌张力障碍,2名发病成员仅有肌阵挛,5名发病成员仅有肌张力障碍.基因检测结果显示,先证者及其父亲、祖父均存在MDS已知致病基因SGCE基因c.835_839delACAAA位点的杂合突变,属于DYT11型肌张力障碍,为常染色体显性遗传.结论 MDS临床表现存在明显异质性,对伴有肌阵挛的肌张力障碍患者进行基因筛查对该类疾病的临床诊治具有重要意义.