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Sequence analysis revealed five different mutations in five families (n\u2009=\u200910); Ser81Pro (novel), Ser76X, Gly203Arg, 249del A, and IVS5\u2009+\u20093insT. Applying multiple ligation\u2010dependent probe amplification analysis, we detected a large heterozygous deletion of exons 1\u20133 in the remaining three families (n\u2009=\u200912), which was verified by quantitative real\u2010time PCR analysis. Therefore, the large deletion accounted for 37.5% of the total families and 55% of our DRD population. The deletion appeared to have high penetrance and was associated with multifocal dystonia and adult onset in males. Adult\u2010onset patients were commonly presenting with resting tremor, rigidity, and bradykinesia, indistinguishable from those in Parkinson's disease. In conclusion, a high frequency of multiexonic deletion of <jats:italic>GCH1<\/jats:italic> was identified in the Taiwanese DRD population. By dosage analysis, we were able to detect a mutation in all patients. Our study demonstrates that dosage analysis is necessary for molecular diagnostics in DRD patients of Han Chinese ethnicity. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.31058","type":"journal-article","created":{"date-parts":[[2010,1,15]],"date-time":"2010-01-15T15:14:02Z","timestamp":1263568442000},"page":"903-908","source":"Crossref","is-referenced-by-count":16,"title":["High frequency of multiexonic deletion of the <i>GCH1<\/i> gene in a Taiwanese cohort of dopa\u2010response 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