Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese
Copyright policy )Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese
Tyrosine hydroxylase deficiency is a rare neurotransmitter disorder affecting the rate-limiting step in catecholamine biosynthesis. There are about 40 cases reported worldwide. Here, we report the biochemical and molecular findings of eight unrelated Chinese patients with tyrosine hydroxylase deficiency. We have identified eight novel mutations with 5 missense, 2 nonsense and 1 splicing mutations in the TH gene, namely p.R153X, p.R169X, p.G294R, p.G315S, p.A385V, p.I394T, p.G408R, and c.1163+5G>C. The mutations of the TH gene in Chinese are heterogeneous.
- Prince of Wales Hospital China (People's Republic of)
- Caritas Medical Centre China (People's Republic of)
- Alice Ho Miu Ling Nethersole Hospital China (People's Republic of)
- Queen Mary Hospital China (People's Republic of)
- University of Hong Kong (香港大學) China (People's Republic of)
Male, Hong Kong Chinese, Galactorrhea - genetics, Tyrosine 3-Monooxygenase, Homovanillic Acid - metabolism, Asian People, Humans, Muscle Hypotonia - genetics, Homovanillic acid, Age of Onset, Preschool, Child, Tyrosine 3-Monooxygenase - deficiency - genetics, Dystonia - genetics, Infant, Homovanillic Acid, Galactorrhea, Mutational analysis, Dopa-responsive dystonia, CSF neurotransmitters, Dystonia, Asian Continental Ancestry Group - genetics, Child, Preschool, Tyrosine hydroxylase deficiency, Mutation, Hong Kong, Muscle Hypotonia, Female
Male, Hong Kong Chinese, Galactorrhea - genetics, Tyrosine 3-Monooxygenase, Homovanillic Acid - metabolism, Asian People, Humans, Muscle Hypotonia - genetics, Homovanillic acid, Age of Onset, Preschool, Child, Tyrosine 3-Monooxygenase - deficiency - genetics, Dystonia - genetics, Infant, Homovanillic Acid, Galactorrhea, Mutational analysis, Dopa-responsive dystonia, CSF neurotransmitters, Dystonia, Asian Continental Ancestry Group - genetics, Child, Preschool, Tyrosine hydroxylase deficiency, Mutation, Hong Kong, Muscle Hypotonia, Female
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