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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene.

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.[1]

References

  1. Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene. Furukawa, Y., Guttman, M., Sparagana, S.P., Trugman, J.M., Hyland, K., Wyatt, P., Lang, A.E., Rouleau, G.A., Shimadzu, M., Kish, S.J. Ann. Neurol. (2000) [Pubmed]
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