De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.

doi:10.1016/j.gim.2023.101013

Article

De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2024

Brunet Theresa, Zott Benedikt, Lieftüchter Victoria, Lenz Dominic, Schmidt Axel, Peters Philipp, Kopajtich Robert, Zaddach Malin, Zimmermann Hanna, Hüning Irina, Ballhausen Diana, Staufner Christian, Bianzano Alyssa, Hughes Joanne, Taylor Robert W, McFarland Robert, Devlin Anita, Mihaljević Mihaela, Barišić Nina, Rohlfs Meino, Wilfling Sibylle, Sondheimer Neal, Hewson Stacy, Marinakis Nikolaos M, Kosma Konstantina, Traeger-Synodinos Joanne, Elbracht Miriam, Begemann Matthias, Trepels-Kottek Sonja, Hasan Dimah, Scala Marcello, Capra Valeria, Zara Federico, van der Ven Amelie T, Driemeyer Joenna, Apitz Christian, Krämer Johannes, Strong Alanna, Hakonarson Hakon, Watson Deborah, Mayr Johannes A, Prokisch Holger, Meitinger Thomas, Borggraefe Ingo, Spiegler Juliane, Baric Ivo, Paolini Marco, Gerstl Lucia, Wagner Matias

Abstract excerpt

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...

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De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.

Abstract excerpt

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