Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study

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Publikace nespadá pod Ústav výpočetní techniky, ale pod Lékařskou fakultu. Oficiální stránka publikace je na webu muni.cz.

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ZECH M. JECH R. BOESCH S. SKORVANEK M. NECPAL J. SVANTNEROVA J. WAGNER M. SADR-NABAVI A. DISTELMAIER F. KRENN M. SERRANOVA T. REKTOROVÁ Irena HAVRANKOVA P. MOSEJOVA A. PRIHODOVA I. SARLAKOVA J. KULCSAROVA K. ULMANOVA O. BECHYNE K. OSTROZOVICOVA M. HAN 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.

Rok publikování 2021
Druh Článek v odborném periodiku
Časopis / Zdroj Movement Disorders
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
www https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.28614
Doi http://dx.doi.org/10.1002/mds.28614
Klíčová slova exome sequencing; diagnostic yield; dystonia; prediction; scoring algorithm; rare disease
Popis 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. (c) 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society
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