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

J 2021

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

ZECH, M., R. JECH, S. BOESCH, M. SKORVANEK, J. NECPAL et. al.

Základní údaje

Originální název

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

Autoři

ZECH, M. (garant), R. JECH, S. BOESCH, M. SKORVANEK, J. NECPAL, J. SVANTNEROVA, M. WAGNER, A. SADR-NABAVI, F. DISTELMAIER, M. KRENN, T. SERRANOVA, Irena REKTOROVÁ (203 Česká republika, domácí), P. HAVRANKOVA, A. MOSEJOVA, I. PRIHODOVA, J. SARLAKOVA, K. KULCSAROVA, O. ULMANOVA, K. BECHYNE, M. OSTROZOVICOVA, V. HAN, J. R. VENTOSA, T. BRUNET, R. BERUTTI, M. SHARIATI, A. SHOEIBI, S. A. SCHNEIDER, A. KUSTER, M. BAUMANN, D. WEISE, F. WILBERT, W. G. JANZARIK, M. ECKENWEILER, V. MALL, B. HASLINGER, S. BERWECK, J. WINKELMANN a K. OEXLE

Vydání

Movement Disorders, Hoboken, Wiley-Blackwell, 2021, 0885-3185

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30210 Clinical neurology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 9.698

Kód RIV

RIV/00216224:14110/21:00121975

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1002/mds.28614

UT WoS

000647023100001

Klíčová slova anglicky

exome sequencing; diagnostic yield; dystonia; prediction; scoring algorithm; rare disease

Štítky

14110127, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 17. 5. 2022 10:21, Mgr. Tereza Miškechová

Anotace

V originále

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

Návaznosti

825575, interní kód MU

Název: European Joint Programme on Rare Diseases (Akronym: EJP RD)

Investor: Evropská unie, European Joint Programme on Rare Diseases, Health, demographic change and wellbeing (Societal Challenges)

Citovat

ZECH, M., R. JECH, S. BOESCH, M. SKORVANEK, J. NECPAL, J. SVANTNEROVA, M. WAGNER, A. SADR-NABAVI, F. DISTELMAIER, M. KRENN, T. SERRANOVA, Irena REKTOROVÁ, P. HAVRANKOVA, A. MOSEJOVA, I. PRIHODOVA, J. SARLAKOVA, K. KULCSAROVA, O. ULMANOVA, K. BECHYNE, M. OSTROZOVICOVA, V. HAN, J. R. VENTOSA, T. BRUNET, R. BERUTTI, M. SHARIATI, A. SHOEIBI, S. A. SCHNEIDER, A. KUSTER, M. BAUMANN, D. WEISE, F. WILBERT, W. G. JANZARIK, M. ECKENWEILER, V. MALL, B. HASLINGER, S. BERWECK, J. WINKELMANN a K. OEXLE. Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study. Movement Disorders. Hoboken: Wiley-Blackwell, 2021, roč. 36, č. 8, s. 1959-1964. ISSN 0885-3185. Dostupné z: https://dx.doi.org/10.1002/mds.28614.

@article{1783547,
   author = {Zech, M. and Jech, R. and Boesch, S. and Skorvanek, M. and Necpal, J. and Svantnerova, J. and Wagner, M. and SadrandNabavi, A. and Distelmaier, F. and Krenn, M. and Serranova, T. and Rektorová, Irena and Havrankova, P. and Mosejova, A. and Prihodova, I. and Sarlakova, J. and Kulcsarova, K. and Ulmanova, O. and Bechyne, K. and Ostrozovicova, M. and Han, V. and Ventosa, J. R. and Brunet, T. and Berutti, R. and Shariati, M. and Shoeibi, A. and Schneider, S. A. and Kuster, A. and Baumann, M. and Weise, D. and Wilbert, F. and Janzarik, W. G. and Eckenweiler, M. and Mall, V. and Haslinger, B. and Berweck, S. and Winkelmann, J. and Oexle, K.},
   article_location = {Hoboken},
   article_number = {8},
   doi = {http://dx.doi.org/10.1002/mds.28614},
   keywords = {exome sequencing; diagnostic yield; dystonia; prediction; scoring algorithm; rare disease},
   language = {eng},
   issn = {0885-3185},
   journal = {Movement Disorders},
   title = {Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study},
   url = {https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.28614},
   volume = {36},
   year = {2021}
}

TY  - JOUR
ID  - 1783547
AU  - 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.
PY  - 2021
TI  - Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study
JF  - Movement Disorders
VL  - 36
IS  - 8
SP  - 1959-1964
EP  - 1959-1964
PB  - Wiley-Blackwell
SN  - 08853185
KW  - exome sequencing
KW  - diagnostic yield
KW  - dystonia
KW  - prediction
KW  - scoring algorithm
KW  - rare disease
UR  - https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.28614
N2  - 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
ER  -

ZECH, M., R. JECH, S. BOESCH, M. SKORVANEK, J. NECPAL, J. SVANTNEROVA, M. WAGNER, A. SADR-NABAVI, F. DISTELMAIER, M. KRENN, T. SERRANOVA, Irena REKTOROVÁ, P. HAVRANKOVA, A. MOSEJOVA, I. PRIHODOVA, J. SARLAKOVA, K. KULCSAROVA, O. ULMANOVA, K. BECHYNE, M. OSTROZOVICOVA, V. HAN, J. R. VENTOSA, T. BRUNET, R. BERUTTI, M. SHARIATI, A. SHOEIBI, S. A. SCHNEIDER, A. KUSTER, M. BAUMANN, D. WEISE, F. WILBERT, W. G. JANZARIK, M. ECKENWEILER, V. MALL, B. HASLINGER, S. BERWECK, J. WINKELMANN a K. OEXLE. Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study. \textit{Movement Disorders}. Hoboken: Wiley-Blackwell, 2021, roč.~36, č.~8, s.~1959-1964. ISSN~0885-3185. Dostupné z: https://dx.doi.org/10.1002/mds.28614.

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