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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.B. ; Prokisch, H. ; Kubisch, C.* ; Denecke, J.* ; Santer, R.* ; Hempel, M.*

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

Clin. Genet., DOI: 10.1111/cge.14061 (2021)
Publ. Version/Full Text DOI
Open Access Gold (Paid Option)
Creative Commons Lizenzvertrag
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.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Child Development Disorders ; Early Diagnosis ; Medical Genetics ; Mitochondria ; Whole Exome Sequencing; Diagnostic-criteria; Genetics; Disease
ISSN (print) / ISBN 0009-9163
e-ISSN 1399-0004
Publisher Wiley
Publishing Place 111 River St, Hoboken 07030-5774, Nj Usa
Reviewing status Peer reviewed
Grants German Bundesministerium fur Bildung und Forschung (mitoNET)