A novel pathological mutation of tyrosine hydroxylase gene in dopa-responsive dystonia
10.3760/cma.j.issn.1006-7876.2018.10.006
- VernacularTitle:多巴反应性肌张力障碍酪氨酸羟化酶基因的一个新致病突变
- Author:
Zhengqing HE
1
;
Bo SUN
;
Yanran LI
;
Fei YANG
;
Xusheng HUANG
Author Information
1. 解放军总医院神经内科
- Keywords:
Dopa-responsive dystonia;
Tyrosine hydroxylase;
Mutation
- From:
Chinese Journal of Neurology
2018;51(10):808-812
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical characteristics and gene mutation in a patient clinically diagnosed as dopa-responsive dystonia (DRD) without family history.Methods The clinical characteristics of a patient clinically diagnosed as DRD without family history were collected and molecular and bioinformatic analyses were performed.Results The patient demonstrated as type A tyrosine hydroxylase deficiency and a compound heterozygous mutation of tyrosine hydroxylase (TH) gene was found,including a known nonsense mutation,c.457C＞T and a novel missense mutation,c.734G＞T that was probably pathologically predicted by bioinformatic analysis.Conclusion c.734G＞T may be a novel pathological mutation of TH gene.
