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

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

Research output: Contribution to journalArticlepeer-review

30 Scopus citations


Tyrosine hydroxylase (TH) enzyme is a rate limiting enzyme in dopamine biosynthesis. Missense mutation in both alleles of the TH gene is known to cause dopamine-related phenotypes, including dystonia and infantile Parkinsonism. However, it is not clear if single allele mutation in TH modifies the susceptibility to the adult form of Parkinson disease (PD). We reported a novel deletion of entire TH gene in an adult with PD. The deletion was first identified by copy number variation (CNV) analysis in a genome-wide association study using Illumina Infinium BeadChips. After screening 635 cases and 642 controls, the deletion was found in one PD case but not in any control. The deletion was confirmed by multiple quantitative PCR (qPCR) assays. There is no additional exonic single nucleotide variant in the one copy of TH gene of the patient. The patient has an age-at-onset of 54 years, no evidence for dystonia, and was responsive to L-DOPA. This case supports the importance of the TH gene in PD pathogenesis and raises more attention to rare variants in candidate genes being a risk factor for Parkinson disease.

Original languageEnglish (US)
Pages (from-to)E1767-E1771
JournalHuman mutation
Issue number10
StatePublished - Oct 2010


  • CNV
  • Deletion
  • Parkinson disease
  • Rare variants
  • TH

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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