Serac1基因突变导致全身型肌张力障碍伴3-甲基戊二酸尿症2例报告  

Generalized dystonia with 3-methylglutaconic aciduria caused by Serac1 gene mutation:A report of two cases

作　　者：李暘 万新华[1] LI Yang;WAN Xinhua(Neurology Department of Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)

机构地区：[1]中国医学科学院,北京协和医院神经科,北京100730

出　　处：《中风与神经疾病杂志》2025年第4期297-299,F0002,共4页Journal of Apoplexy and Nervous Diseases

基　　金：中央高水平医院临床科研业务费资助(2022-PUMCH-B-018)。

摘　　要：本研究对2例伴有3-甲基戊二酸尿症的全身型肌张力障碍的患者(系姐妹)进行了临床表型分析及基因检测。通过病史采集、影像学及实验室检查,基因学分析,发现2例患者6号染色体上的Serac1基因存在纯合突变c.1687T>C该突变位点位于第16外显子,此前以青少年期起病的全身型肌张力障碍为主要临床表型的Serac1基因突变尚未在文献中报道。本研究首次发现Serac1该位点突变可引起全身型肌张力障碍,并可能为未来类似病例的诊断和治疗提供参考。This study reports a pair of sisters with generalized dystonia and 3-methylglutaconic aciduria,including clinical phenotype analysis and genetic testing.Through medical history collection,imaging and laboratory examinations,and genetic analysis,it was found that the two patients had a homozygous mutation,c.1687T>C,in the Serac1 gene on chromosome 6,which was located at exon 16.The Serac1 gene mutation with adolescent-onset generalized dystonia as the main clinical phenotype has not been reported in the literature before.This study finds for the first time that Serac1 mutation at this site can cause generalized dystonia,which can provide a reference for the diagnosis and treatment of similar cases in the future.

关 键 词：全身型肌张力障碍 Serac1 3-甲基戊二酸尿症 全外显子基因测序 

分 类 号：R596[医药卫生—内科学] R741[医药卫生—临床医学]