中风与神经疾病杂志2025，Vol.42Issue(4)：297-299,3.DOI:10.19845/j.cnki.zfysjjbzz.2025.0059
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
摘要
Abstract
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 muta-tion 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Key words
Generalized dystonia/Serac1/3-Methylglutaconic aciduria/Whole exome sequencing分类
临床医学引用本文复制引用
李暘,万新华..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[J].中风与神经疾病杂志,2025,42(4):297-299,3.基金项目
中央高水平医院临床科研业务费资助(2022-PUMCH-B-018) （2022-PUMCH-B-018）
