A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease

Human Mutation

Volumn 31, Issue 10, 2010, Pages

  Bademci, Güney ^a   Edwards, Todd L ^b   Torres, Andre L ^a   Scott, William K ^a   Züchner, Stephan ^a   Martin, Eden R ^a   Vance, Jeffery M ^a   Wang, Liyong ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

CNV; Deletion; Parkinson disease; Rare variants; TH

Indexed keywords

LEVODOPA; TYROSINE 3 MONOOXYGENASE;

ADULT; ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; EXON; GENE DELETION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; ONSET AGE; PARKINSON DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ASSAY; CASE REPORT; ENZYMOLOGY; FEMALE; GENE DOSAGE; GENETICS; MIDDLE AGED; SINGLE NUCLEOTIDE POLYMORPHISM;

AGE OF ONSET; FEMALE; GENE DELETION; GENE DOSAGE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MIDDLE AGED; PARKINSON DISEASE; POLYMORPHISM, SINGLE NUCLEOTIDE; TYROSINE 3-MONOOXYGENASE;

EID: 79952115184     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21351     Document Type: Article

References (26)

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13. Zafeiriou DI, Willemsen MA, Verbeek MM, Vargiami E, Ververi A, Wevers R. 2009. Tyrosine hydroxylase deficiency with severe clinical course. Mol Genet Metab 97:18-20.
14. Beecham GW, Martin ER, Li YJ, Slifer MA, Gilbert JR, Haines JL, Pericak-Vance MA. 2009.Genomewide association study implicates a chromosome 12 risk locus for lateonset Alzheimer disease. Am J Hum Genet 84:35-43.
15. Bodmer W, Bonilla C. 2008. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 40:695-701.
16. De La Cruz CP, Revilla E, Venero JL, Ayala A, Cano J, Machado A. 1996. Oxidative inactivation of tyrosine hydroxylase in substantia nigra of aged rat. Free Radic Biol Med 20:53-61.
17. Edwards TL , Scott WK, Almonte C, Burt A, Powell EH, Beecham GW, Wang L, Züchner S, Konidari I, Wang G, Singer C, Nahab F, Scott B, Stajich JM, Pericak-Vance M, Haines J, Vance JM, Martin ER. 2010. Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. Ann Hum Genet 74:97-109.
18. Furukawa Y, Graf WD, Wong H, Shimadzu M, Kish SJ. 2001. Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations. Neurology 56: 260-263. Gunderson KL, Steemers FJ, Lee G, Mendoza LG, Chee MS. 2005. A genome-wide scalable SNP genotyping assay using microarray technology. Nat Genet 37:549-554.
19. Gunderson KL, Steemers FJ, Lee G, Mendoza LG,Chee MS. 2005. A genome-wide scalable SNP genotyping assay using microarray technology. Nat Genet 37:549-554.
20. Haavik J, Toska K. 1998. Tyrosine Hydroxylase and Parkinson's Disease. Mol Neurobiol 16:285-309.
21. Hertz JM, Ostergaard K, Juncker I, Pedersen S, Romstad A, Møller LB, Güttler F, Dupont E. 2006. Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease. Eur J Neurol 13:385-390.
22. Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, Haussler D. 2002. The human genome browser at UCSC. Genome Res. 12:996-1006.
23. Liu X, Zhang SS, Fang DF, Ma MY, Guo XY, Yang Y, Shang HF. 2010. GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia. Mov Disord 25:447-51.
24. Rocca WA, Maraganore DM, McDonnell SK, Schaid DJ. 1998. Validation of a telephone questionnaire for Parkinson's disease. J Clin Epidemiol 51:517-523.
25. Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SF, Hakonarson H, Bucan M. 2007. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 17:1665-1674.
26. Zafeiriou DI, Willemsen MA, Verbeek MM, Vargiami E, Ververi A, Wevers R. 2009. Tyrosine hydroxylase deficiency with severe clinical course. Mol Genet Metab 97:18-20.