NR AXSQ
AU Mead,S.; Beck,J.; Adamson,G.; Campbell,T.; Uphill,J.; Bostantjopoulou,S.; Bazak,N.; Collinge,J.
TI A PRNP Missense Allele Series in Patients and Healthy Populations
QU International Conference - Prion 2007 (26.-28.9.2007) Edinburgh International Conference Centre, Edinburgh, Scotland, UK - Book of Abstracts: Pathology and Pathogenesis P03.30
IA http://www.prion2007.com/pdf/Prion Book of Abstracts.pdf
PT Konferenz-Poster
AB The MRC Prion Unit receives around 200 samples per annum for diagnostic prion protein gene sequencing. Largely these comprise UK patients with suspected Creutzfeldt-Jakob disease (CJD) or probands from kindreds with early onset dementias. Increasingly we have received international referrals. Here we report a series of rare or novel variants detected in these patients. Two variants were detected in UK white Caucasian patients together with known highly penetrant PRNP mutations: an insertion of a single extra octapeptide repeat was found in trans with P102L; in another patient V209M was found in trans with P105L. These changes are thus likely to be coincidently detected rare polymorphisms. G114V and D167N were found in young suspected CJD patients from Turkey, and were absent in population controls. T193I was found in a single elderly Greek woman with suspected CJD. Clinical details and the predicted impact of these changes on protein structure will be discussed.
AD S. Mead, J. Beck, G. Adamson, T. Campbell, J. Uphill, J. Collinge, MRC Prion Unit, UK; S. Bostantjopoulou (bostkamb@spark.net.gr), Neurological Clinic, General University Hospital G. Papanicolaou, Exohi, Thessaloniki, Greece; N. Bazak, Bogazici University, Molecular Biology and Genetics, Turkey
SP englisch
PO Schottland
EA pdf-Datei und Poster (Posterautoren: J. Beck, P. Adib-Samii, T. Campbell, G. Adamson, J. Stevens, M. Poulter, J. Uphill, E. Molou, G.S. Jackson, S. Mead und J. Collinge)