06 February 2018 : Clinical Research
Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in THKunfang Yang1AC*, Rongrong Yin1B, Xiaoping Lan2CD, Yuanfeng Zhang1CDG, Hongyi Cheng1EF, Simei Wang1DE, Chunmei Wang1C, Yanfen Lu1C, Jiaming Xi1C, Qin Lu1C, Jianjun Huang1C, Yucai Chen1ABC
Med Sci Monit 2018; 24: CLR751-757
BACKGROUND: This study aimed to clarify the diagnosis and expand the understanding of dopa-responsive dystonia (DRD).
MATERIAL AND METHODS: Relevant data from clinical diagnoses and genetic mutational analyses in 3 Han Chinese patients with sporadic DRD were collected and analyzed. Protein structure/function was predicted.
RESULTS: One novel mutation of c.679A>G (p.T227A) in GCH1 and 3 known mutations of c.457C>T (p.R153X), c.739G>A (p.G247S), and c.698G>A (p.R227H) in tyrosine hydroxylase (TH) have been found and predicted to be damaging or deleterious. All of the mutations were localized in conserved sequences. The iterative threading assembly refinement (I-TASSER) server generated three-dimensional (3D) atomic models based on protein sequences from the novel nonsense mutation of c.679A>G (p.T227A) in GCH1, which showed that residue 227 was located in the GCH1 active site.
CONCLUSIONS: Patients carrying different non-synonymous variants had remarkable variation in clinical phenotype. This study expands the spectrum of genotypes and phenotypes of DRD in the Han Chinese ethnicity, provides new insights into the molecular mechanism of DRD, and helps the diagnosis and treatment of DRD.
Keywords: Dopamine Agonists, Dystonic Disorders, GTP Cyclohydrolase
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