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Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

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Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort. / van der Ven, Amelie T; Johannsen, Jessika; Kortüm, Fanny; Wagner, Matias; Tsiakas, Konstantinos; Bierhals, Tatjana; Lessel, Davor; Herget, Theresia; Kloth, Katja; Lisfeld, Jasmin; Scholz, Tasja; Obi, Nadia; Wortmann, Saskia; Prokisch, Holger; Kubisch, Christian; Denecke, Jonas; Santer, René; Hempel, Maja.

in: CLIN GENET, Jahrgang 100, Nr. 6, 12.2021, S. 766-770.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

van der Ven, AT, Johannsen, J, Kortüm, F, Wagner, M, Tsiakas, K, Bierhals, T, Lessel, D, Herget, T, Kloth, K, Lisfeld, J, Scholz, T, Obi, N, Wortmann, S, Prokisch, H, Kubisch, C, Denecke, J, Santer, R & Hempel, M 2021, 'Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort', CLIN GENET, Jg. 100, Nr. 6, S. 766-770. https://doi.org/10.1111/cge.14061

APA

van der Ven, A. T., Johannsen, J., Kortüm, F., Wagner, M., Tsiakas, K., Bierhals, T., Lessel, D., Herget, T., Kloth, K., Lisfeld, J., Scholz, T., Obi, N., Wortmann, S., Prokisch, H., Kubisch, C., Denecke, J., Santer, R., & Hempel, M. (2021). Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort. CLIN GENET, 100(6), 766-770. https://doi.org/10.1111/cge.14061

Vancouver

van der Ven AT, Johannsen J, Kortüm F, Wagner M, Tsiakas K, Bierhals T et al. Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort. CLIN GENET. 2021 Dez;100(6):766-770. https://doi.org/10.1111/cge.14061

Bibtex

@article{c4f5e46426c94a2a8247550fc03de028,
title = "Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort",
abstract = "Neurological symptoms are frequent and often a leading feature of childhood-onset mitochondrial disorders (MD) but the exact incidence of MD in unselected neuropediatric patients is unknown. Their early detection is desirable due to a potentially rapid clinical decline and the availability of management options. In 491 children with neurological symptoms a comprehensive diagnostic work-up including exome sequencing was performed. The success rate in terms of a molecular genetic diagnosis within our cohort was 51%. Disease-causing variants in a mitochondria-associated gene were detected in 12% of solved cases. In order to facilitate the clinical identification of MDs within neuropediatric cohorts, we have created an easy-to-use bedside-tool, the MDC-NP. In our cohort, the MDC-NP predicted disease conditions related to MDs with a sensitivity of 0.83, and a specificity of 0.96.",
author = "{van der Ven}, {Amelie T} and Jessika Johannsen and Fanny Kort{\"u}m and Matias Wagner and Konstantinos Tsiakas and Tatjana Bierhals and Davor Lessel and Theresia Herget and Katja Kloth and Jasmin Lisfeld and Tasja Scholz and Nadia Obi and Saskia Wortmann and Holger Prokisch and Christian Kubisch and Jonas Denecke and Ren{\'e} Santer and Maja Hempel",
note = "This article is protected by copyright. All rights reserved.",
year = "2021",
month = dec,
doi = "10.1111/cge.14061",
language = "English",
volume = "100",
pages = "766--770",
journal = "CLIN GENET",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
number = "6",

}

RIS

TY - JOUR

T1 - Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

AU - van der Ven, Amelie T

AU - Johannsen, Jessika

AU - Kortüm, Fanny

AU - Wagner, Matias

AU - Tsiakas, Konstantinos

AU - Bierhals, Tatjana

AU - Lessel, Davor

AU - Herget, Theresia

AU - Kloth, Katja

AU - Lisfeld, Jasmin

AU - Scholz, Tasja

AU - Obi, Nadia

AU - Wortmann, Saskia

AU - Prokisch, Holger

AU - Kubisch, Christian

AU - Denecke, Jonas

AU - Santer, René

AU - Hempel, Maja

N1 - This article is protected by copyright. All rights reserved.

PY - 2021/12

Y1 - 2021/12

N2 - Neurological symptoms are frequent and often a leading feature of childhood-onset mitochondrial disorders (MD) but the exact incidence of MD in unselected neuropediatric patients is unknown. Their early detection is desirable due to a potentially rapid clinical decline and the availability of management options. In 491 children with neurological symptoms a comprehensive diagnostic work-up including exome sequencing was performed. The success rate in terms of a molecular genetic diagnosis within our cohort was 51%. Disease-causing variants in a mitochondria-associated gene were detected in 12% of solved cases. In order to facilitate the clinical identification of MDs within neuropediatric cohorts, we have created an easy-to-use bedside-tool, the MDC-NP. In our cohort, the MDC-NP predicted disease conditions related to MDs with a sensitivity of 0.83, and a specificity of 0.96.

AB - Neurological symptoms are frequent and often a leading feature of childhood-onset mitochondrial disorders (MD) but the exact incidence of MD in unselected neuropediatric patients is unknown. Their early detection is desirable due to a potentially rapid clinical decline and the availability of management options. In 491 children with neurological symptoms a comprehensive diagnostic work-up including exome sequencing was performed. The success rate in terms of a molecular genetic diagnosis within our cohort was 51%. Disease-causing variants in a mitochondria-associated gene were detected in 12% of solved cases. In order to facilitate the clinical identification of MDs within neuropediatric cohorts, we have created an easy-to-use bedside-tool, the MDC-NP. In our cohort, the MDC-NP predicted disease conditions related to MDs with a sensitivity of 0.83, and a specificity of 0.96.

U2 - 10.1111/cge.14061

DO - 10.1111/cge.14061

M3 - SCORING: Journal article

C2 - 34490615

VL - 100

SP - 766

EP - 770

JO - CLIN GENET

JF - CLIN GENET

SN - 0009-9163

IS - 6

ER -