caa a22 4500 397573766 CHVBK 20180308164849.0 cr unu---uuuuu 161202e199603 xx s 000 0 eng 10.1093/hmg/5.3.403 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.3.403 Dopa-Responsive Dystonia in British Patients: New Mutations of the GTP-Cyclohydrolase I Gene and Evidence for Genetic Heterogeneity [Elektronische Daten] [Oliver Bandmann, Torbjoern G. Nygaard, Robert Surtees, C. David Marsden, Nicholas W. Wood, Anita E. 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. © 1996 Oxford University Press Bandmann Oliver University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London, UK aut Nygaard Torbjoern G. Department of Neurology, Columbia University, New York, USA aut Surtees Robert Institute of Child Health, Guilford Street, London, UK aut David Marsden C. University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London, UK aut Wood Nicholas W. University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London, UK aut Harding Anita E. University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London, UK aut Human Molecular Genetics Oxford University Press 5/3(1996-03), 403-406 0964-6906 5:3<403 1996 5 hmg https://doi.org/10.1093/hmg/5.3.403 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.3.403 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Bandmann Oliver University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London, UK aut NATIONALLICENCE 700 1- Nygaard Torbjoern G. Department of Neurology, Columbia University, New York, USA aut NATIONALLICENCE 700 1- Surtees Robert Institute of Child Health, Guilford Street, London, UK aut NATIONALLICENCE 700 1- David Marsden C. University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London, UK aut NATIONALLICENCE 700 1- Wood Nicholas W. University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London, UK aut NATIONALLICENCE 700 1- Harding Anita E. University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London, UK aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/3(1996-03), 403-406 0964-6906 5:3<403 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford