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Zech, M. ; Jech, R.* ; Boesch, S.* ; Škorvánek, M.* ; Necpál, J.* ; Švantnerová, J.* ; Wagner, M. ; Sadr-Nabavi, A.* ; Distelmaier, F.* ; Krenn, M.* ; Serranová, T.* ; Rektorová, I.* ; Havránková, P.* ; Mosejová, A.* ; Příhodová, I.* ; Šarláková, J.* ; Kulcsarová, K.* ; Ulmanová, O.* ; Bechyně, K.* ; Ostrozovičová, M.* ; Haň, V.* ; Ventosa, J.R.* ; Brunet, T.* ; Berutti, R.* ; Shariati, M.* ; Shoeibi, A.* ; Schneider, S.A.* ; Kuster, A.* ; Baumann, M.* ; Weise, D.* ; Wilbert, F.* ; Janzarik, W.G.* ; Eckenweiler, M.* ; Mall, V.* ; Haslinger, B.* ; Berweck, S.* ; Winkelmann, J. ; Oexle, K.

Scoring algorithm-based genomic testing in dystonia: A prospective validation study.

Mov. Disord. 36, 959-1964 (2021)
Publ. Version/Full Text Research data DOI PMC
Open Access Gold (Paid Option)
Creative Commons Lizenzvertrag
BACKGROUND: Despite the established value of genomic testing strategies, practice guidelines for their use do not exist in many indications. OBJECTIVES: We sought to validate a recently introduced scoring algorithm for dystonia, predicting the diagnostic utility of whole-exome sequencing (WES) based on individual phenotypic aspects (age-at-onset, body distribution, presenting comorbidity). METHODS: We prospectively enrolled a set of 209 dystonia-affected families and obtained summary scores (0-5 points) according to the algorithm. Singleton (N = 146), duo (N = 11), and trio (N = 52) WES data were generated to identify genetic diagnoses. RESULTS: Diagnostic yield was highest (51%) among individuals with a summary score of 5, corresponding to a manifestation of early-onset segmental or generalized dystonia with coexisting non-movement disorder-related neurological symptoms. Sensitivity and specificity at the previously suggested threshold for implementation of WES (3 points) was 96% and 52%, with area under the curve of 0.81. CONCLUSIONS: The algorithm is a useful predictive tool and could be integrated into dystonia routine diagnostic protocols.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Diagnostic Yield ; Dystonia ; Exome Sequencing ; Prediction ; Rare Disease ; Scoring Algorithm
ISSN (print) / ISBN 0885-3185
e-ISSN 1531-8257
Journal Movement Disorders
Quellenangaben Volume: 36, Issue: 8, Pages: 959-1964 Article Number: , Supplement: ,
Publisher Wiley
Publishing Place 111 River St, Hoboken 07030-5774, Nj Usa
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
Grants Operational Programme Integrated Infrastructure - ERDF
Slovak Grant and Development Agency
European Joint Programme on Rare Diseases
Czech Ministry of Education
Charles University, Prague, Czech Republic
Medizinische Universitat Innsbruck, Innsbruck, Austria
Helmholtz Zentrum Munchen, Munich, Germany
Technische Universitat Munchen, Munich, Germany