TH gene mutation in Chinese patients with autosomal recessive dopa-responsive dystonia

Chinese Journal of Medical Genetics

Volumn 21, Issue 5, 2004, Pages 452-454

  Liu, Wei ^a   Tang, Bei Sha ^a   Cao, Gui Fang ^a   Chen, Tao ^a   Li, Hai Yan ^a  

^a CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

Dopa responsive dystonia; Polymerase chain reaction single strand conformation polymorphism; Tyrosine hydroxylase gene mutation

Indexed keywords

DOPA; TYROSINE 3 MONOOXYGENASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHINESE; DNA SEQUENCE; DOPA RESPONSIVE DYSTONIA; DYSTONIA; EXON; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; DYSTONIA; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA; TYROSINE 3-MONOOXYGENASE;

EID: 5644300649     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. Nygaard TG, Wilhelmsen KC, Risch NJ, et al. Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q. Nat Genet, 1993, 5: 386-391.
2. Knappskog PM, Flatmark T, Mallet J, et al. Recessively inherited L-dopa-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum Mol Genet, 1995, 4: 1209-1212.
3. Segawa M. Hereditary progressive dystonia with marked diurnal fluctuation. Brain Dev, 2000, 22 (Suppl 1): S65-S80.
4. Ichinose H, Inagaki H, Suzuki T, et al. Molecular mechanisms of hereditary progressive dystonia with marked diurnal fluctuation, Segawa's disease. Brain Dev, 2000, 22 (Supp 1): S107-S110.
5. Craig SP, Buckle VJ, Craig IW, et al. Localization of the human tyrosine hydroxylase gene to chromosome 11p15. Cytogenet Cell Genet, 1986, 42: 29-32.
6. Ludecke B, Dworniczak B, Bartholome K. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum Genet, 1995, 95: 123-125.
7. Goodwill KE, Sabatier C, Stevens RC. Crystal structure of tyrosine hydroxylase with bound cofactor analogue and iron at 2.3 A resolution: self-hydroxylation of Phe300 and the pterin-binding site. Biochemistry, 1998, 37: 13437-13445.
8. Yohrling GJ, Jiang GC, Mockus SM, et al. Intersubunit binding domains within tyrosine hydroxylase and tryptophan hydroxylase. J Neurosci Res, 2000, 61: 313-320.
9. Bartholome K, Dworniczak B, Ludecke B. Linkage of the tyrosine hydroxylase gene and Segawa's disease. Am J Hum Genet, 1993, 53(Supp 1): A889.
10. Ludecke B, Knappskog PM, Clayton PT, et al. Recessively inherited L-DOPA-responsive parkinsonism infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Hum Mol Genet, 1996, 5: 1023-1028.
11. van den Heuvel LP, Luiten B, Smeitink JA, et al. A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population. Hum Genet, 1998, 102: 644-646.
12. Wevers RA, de Rijk-Van Andel JF, Brautigam C, et al. A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291 del C). J Inherit Metab Dis, 1999, 22: 364-373.
13. Swaans RJ, Rondot P, Renier WO, et al. Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. Ann Hum Genet, 2000, 64: 25-31.
14. Janssen RJ, Wevers RA, Haussler M, et al. A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder. Ann Hum Genet, 2000, 64: 375-382.