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Article

De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2023

von Wintzingerode Lydia, Ben-Zeev Bruria, Cesario Claudia, Chan Katie M, Depienne Christel, Elpeleg Orly, Iascone Maria, Kelley Whitley V, Nassogne Marie-Cécile, Niceta Marcello, Pezzani Lidia, Rahner Nils, Revencu Nicole, Bekheirnia Mir Reza, Santiago-Sim Teresa, Tartaglia Marco, Thompson Michelle L, Trivisano Marina, Hentschel Julia, Sticht Heinrich, Abou Jamra Rami, Oppermann Henry

Abstract excerpt

PURPOSE: The study aimed to clinically and molecularly characterize the neurodevelopmental disorder associated with heterozygous de novo variants in CNOT9. METHODS: Individuals were clinically examined. Variants were identified using exome or genome sequencing. These variants were evaluated using in silico predictions, and their functional relevance was further assessed by molecular models and research in the...

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Identifiers

PMID: 37092538
DOI: 10.1016/j.gim.2023.100859

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