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Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease

25 Mar 2021

Abstract excerpt

Background GGC repeat expansion in NOTCH2NLC has been recently linked to neuronal intranuclear inclusion disease (NIID) via unknown disease mechanisms. Herein, we explore the genetic origin of the sporadic cases and toxic RNA gain-of-function mechanism in NIID. Methods Multiple genetic screenings were performed on NIID individuals and their available family members. Methylation status of blood DNA, NOTCH2NLC mRNA...

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PMID: 33766934
DOI: 10.1136/jmedgenet-2020-107649

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