ABSTRACT
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.
Subject(s)
Asian People/genetics , Muscle Hypotonia/genetics , Tyrosine 3-Monooxygenase/deficiency , Age of Onset , Child , Child, Preschool , Dystonia/genetics , Female , Galactorrhea/genetics , Homovanillic Acid/metabolism , Hong Kong , Humans , Infant , Male , Mutation , Tyrosine 3-Monooxygenase/geneticsABSTRACT
Two siblings from a Hong Kong Chinese family are diagnosed to have heterozygous mutation in tyrosine hydroxylase gene-a novel mutation R169X and the common Dutch mutation R233H. Presented with developmental delay and dystonia before 6 months of age, both had hyperprolactinemia with persistent galactorrhea present in the elder brother since birth. Serum prolactin level is a good screening test for those suspected of underlying neurotransmitter diseases. To our knowledge, this is the first Chinese family diagnosed with such condition. Clinicians must be aware of this rare disease especially in those unexplained 'cerebral palsy' like children.
Subject(s)
Dystonia/diagnosis , Dystonia/genetics , Galactorrhea/diagnosis , Galactorrhea/genetics , Tyrosine 3-Monooxygenase/genetics , Asian People/genetics , Child , DNA Mutational Analysis , Developmental Disabilities/diagnosis , Developmental Disabilities/genetics , Female , Humans , Hyperprolactinemia/diagnosis , Hyperprolactinemia/genetics , Male , Point Mutation , Synaptic Transmission/geneticsSubject(s)
Galactorrhea/blood , Lactation Disorders/blood , Prolactin/blood , Adult , Female , Galactorrhea/genetics , Galactorrhea/physiopathology , Humans , PregnancyABSTRACT
In this paper we report on changes of the Ag-stained NOR (Ag-NOR) and Ag-stained acrocentric association (Ag-AA) frequencies in lymphocytes of women with polycystic ovaries, galactorrhea, or taking oral contraceptives. The results showed that Ag-AA frequencies were increased significantly in all three study groups while the Ag-NOR frequencies apparently did not increase. We assume that a difference in average Ag-NOR frequency between the two groups may be a measure of the change in the number of active rRNA genes, and that differences of Ag-AA frequency among populations reflect the change in transcriptional rate of the active rRNA genes.
