Although it is assumed that most patients with autosomal dominant dopa- responsive dystonia (DRD) have a GTP cyclohydrolase I dysfunction, conventional genomic DNA sequencing of the gene (GCH1) coding for this enzyme fails to reveal any mutations in about 40% of DRD patients, which makes molecular genetic diagnosis difficult. We found a large heterozygous GCH1 deletion, which cannot be detected by the usual genomic DNA sequence analysis, in a three-generation DRD family and conclude that a large genomic deletion in GCH1 may account for some 'mutation-negative' patients with dominantly inherited DRD.
|Original language||English (US)|
|Number of pages||4|
|Journal||Annals of Neurology|
|Publication status||Published - 2000|
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