Human Molecular Genetics, Vol 5, 403-406, Copyright © 1996 by Oxford University Press
O Bandmann, TG Nygaard, R Surtees, CD Marsden, NW Wood and AE Harding
Dopa-responsive dystonia (DRD) was originally described in a series of
Japanese patients, but is now increasingly recognized in other countries.
Recently the GTP cyclohydrolase I (GTPCH) gene was isolated as the first
causative gene for dopa-responsive dystonia (DRD). Mutations were
identified in three Japanese families with autosomal dominantly inherited
DRD and in one sporadic Japanese patient. Characterisation of the
exon-intron boundaries of this gene has now allowed the analysis of
mutations at the level of genomic DNA. Amplifying all six exons, we
analyzed the GTPCH gene in nine British families with 33 affected family
members and in three sporadic cases and found six new mutations. Only point
mutations were found, causing a stop codon in one family and an amino acid
change in highly conserved regions of the gene in a further four families
and in one sporadic case. None of these mutations were detected more than
once and none of the mutations previously described were found in our
patients. No mutations were identified in four families and in two sporadic
cases.
ARTICLES
Dopa-responsive dystonia in British patients: new mutations of the GTP- cyclohydrolase I gene and evidence for genetic heterogeneity
University Department of Clinical Neurology, Institute of Neurology, London, UK.
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