Clinical characteristics and molecular genetic analysis of a myoclonus-dystonia syndrome family
10.3760/cma.j.issn.1006-7876.2019.01.005
- VernacularTitle: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
- Author:
Danli SHI
1
;
Chen ZHANG
;
Fang XU
;
Quchun TANG
;
Shimin YIN
;
Lei WANG
Author Information
1. 锦州医科大学火箭军总医院研究生培养基地
- Keywords:
Myoclonus-dystonia syndrome;
Dystonia;
Genetics;
SGCE gene
- From:
Chinese Journal of Neurology
2019;52(1):19-25
- CountryChina
- Language:Chinese
-
Abstract:
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.
