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| Verfasst von: | Brunet, Theresa [VerfasserIn]  |
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| | Zott, Benedikt [VerfasserIn] |
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| | Lieftüchter, Victoria [VerfasserIn] |
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| | Lenz, Dominic [VerfasserIn] |
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| | Schmidt, Axel [VerfasserIn] |
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| | Peters, Philipp [VerfasserIn] |
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| | Kopajtich, Robert [VerfasserIn] |
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| | Zaddach, Malin [VerfasserIn] |
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| | Zimmermann, Hanna [VerfasserIn] |
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| | Hüning, Irina [VerfasserIn] |
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| | Ballhausen, Diana [VerfasserIn] |
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| | Staufner, Christian [VerfasserIn] |
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| | Bianzano, Alyssa [VerfasserIn] |
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| | Hughes, Joanne [VerfasserIn] |
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| | Taylor, Robert W. [VerfasserIn] |
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| | McFarland, Robert [VerfasserIn] |
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| | Devlin, Anita [VerfasserIn] |
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| | Mihaljević, Mihaela [VerfasserIn] |
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| | Barišić, Nina [VerfasserIn] |
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| | Rohlfs, Meino [VerfasserIn] |
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| | Wilfling, Sibylle [VerfasserIn] |
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| | Sondheimer, Neal [VerfasserIn] |
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| | Hewson, Stacy [VerfasserIn] |
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| | Marinakis, Nikolaos M. [VerfasserIn] |
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| | Kosma, Konstantina [VerfasserIn] |
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| | Traeger-Synodinos, Joanne [VerfasserIn] |
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| | Elbracht, Miriam [VerfasserIn] |
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| | Begemann, Matthias [VerfasserIn] |
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| | Trepels-Kottek, Sonja [VerfasserIn] |
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| | Hasan, Dimah [VerfasserIn] |
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| | Scala, Marcello [VerfasserIn] |
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| | Capra, Valeria [VerfasserIn] |
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| | Zara, Federico [VerfasserIn] |
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| | van der Ven, Amelie T. [VerfasserIn] |
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| | Driemeyer, Joenna [VerfasserIn] |
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| | Apitz, Christian [VerfasserIn] |
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| | Krämer, Johannes [VerfasserIn] |
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| | Strong, Alanna [VerfasserIn] |
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| | Hakonarson, Hakon [VerfasserIn] |
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| | Watson, Deborah [VerfasserIn] |
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| | Mayr, Johannes A. [VerfasserIn] |
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| | Prokisch, Holger [VerfasserIn] |
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| | Meitinger, Thomas [VerfasserIn] |
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| | Borggraefe, Ingo [VerfasserIn] |
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| | Spiegler, Juliane [VerfasserIn] |
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| | Baric, Ivo [VerfasserIn] |
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| | Paolini, Marco [VerfasserIn] |
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| | Gerstl, Lucia [VerfasserIn] |
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| | Wagner, Matias [VerfasserIn] |
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| Titel: | De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke |
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| Verf.angabe: | Theresa Brunet, Benedikt Zott, Victoria Lieftüchter, Dominic Lenz, Axel Schmidt, Philipp Peters, Robert Kopajtich, Malin Zaddach, Hanna Zimmermann, Irina Hüning, Diana Ballhausen, Christian Staufner, Alyssa Bianzano, Joanne Hughes, Robert W. Taylor, Robert McFarland, Anita Devlin, Mihaela Mihaljević, Nina Barišić, Meino Rohlfs, Sibylle Wilfling, Neal Sondheimer, Stacy Hewson, Nikolaos M. Marinakis, Konstantina Kosma, Joanne Traeger-Synodinos, Miriam Elbracht, Matthias Begemann, Sonja Trepels-Kottek, Dimah Hasan, Marcello Scala, Valeria Capra, Federico Zara, Amelie T. van der Ven, Joenna Driemeyer, Christian Apitz, Johannes Krämer, Alanna Strong, Hakon Hakonarson, Deborah Watson, Johannes A. Mayr, Holger Prokisch, Thomas Meitinger, Ingo Borggraefe, Juliane Spiegler, Ivo Baric, Marco Paolini, Lucia Gerstl, Matias Wagner |
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| E-Jahr: | 2024 |
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| Jahr: | February 2024 |
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| Umfang: | 12 S. |
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| Illustrationen: | Illustrationen |
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| Fussnoten: | Gesehen am 05.07.2024 ; Online verfügbar 1 November 2023, Version des Artikels 19 December 2023 |
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| Titel Quelle: | Enthalten in: Genetics in medicine |
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| Ort Quelle: | Amsterdam : Elsevier, 1998 |
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| Jahr Quelle: | 2024 |
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| Band/Heft Quelle: | 26(2024), 2 vom: Feb., Artikel-ID 101013, Seite 1-12 |
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| ISSN Quelle: | 1530-0366 |
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| Abstract: | Purpose - RNF213, encoding a giant E3 ubiquitin ligase, has been recognized for its role as a key susceptibility gene for moyamoya disease. Case reports have also implicated specific variants in RNF213 with an early-onset form of moyamoya disease with full penetrance. We aimed to expand the phenotypic spectrum of monogenic RNF213-related disease and to evaluate genotype-phenotype correlations. - Methods - Patients were identified through reanalysis of exome sequencing data of an unselected cohort of unsolved pediatric cases and through GeneMatcher or ClinVar. Functional characterization was done by proteomics analysis and oxidative phosphorylation enzyme activities using patient-derived fibroblasts. - Results - We identified 14 individuals from 13 unrelated families with (de novo) missense variants in RNF213 clustering within or around the Really Interesting New Gene (RING) domain. Individuals presented either with early-onset stroke (n = 11) or with Leigh syndrome (n = 3). No genotype-phenotype correlation could be established. Proteomics using patient-derived fibroblasts revealed no significant differences between clinical subgroups. 3D modeling revealed a clustering of missense variants in the tertiary structure of RNF213 potentially affecting zinc-binding suggesting a gain-of-function or dominant negative effect. - Conclusion - De novo missense variants in RNF213 clustering in the E3 RING or other regions affecting zinc-binding lead to an early-onset syndrome characterized by stroke or Leigh syndrome. |
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| DOI: | doi:10.1016/j.gim.2023.101013 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext: https://doi.org/10.1016/j.gim.2023.101013 |
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| | Volltext: https://www.sciencedirect.com/science/article/pii/S1098360023010298 |
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| | DOI: https://doi.org/10.1016/j.gim.2023.101013 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | exome sequencing |
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| | leigh syndrome |
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| | moyamoya |
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| | RNF213 |
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| | stroke |
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| K10plus-PPN: | 1894172566 |
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| Verknüpfungen: | → Zeitschrift |
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De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke / Brunet, Theresa [VerfasserIn]; February 2024 (Online-Ressource)
