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Dopa‐responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene
Author(s) -
Furukawa Yoshiaki,
Guttman Mark,
Sparagana Steven P.,
Trugman Joel M.,
Hyland Keith,
Wyatt Philip,
Lang Anthony E.,
Rouleau Guy A.,
Shimadzu Mitsunobu,
Kish Stephen J.
Publication year - 2000
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(200004)47:4<517::aid-ana17>3.0.co;2-b
Subject(s) - gtp cyclohydrolase i , genomic dna , dystonia , genetics , gene , mutation , coding region , biology , enzyme , tetrahydrobiopterin , neuroscience , biochemistry , cofactor
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. Ann Neurol 2000;47:517–520.