A murine model of hnRNPH2-related neurodevelopmental disorder recapitulates clinical features of human disease and reveals a mechanism for genetic compensation of <i>HNRNPH2</i>

Abstract excerpt

Mutations in HNRNPH2 cause an X-linked neurodevelopmental disorder with a phenotypic spectrum that includes developmental delay, intellectual disability, language impairment, motor function deficits, and seizures. More than 90% of patients with this disorder have a missense mutation within or adjacent to the nuclear localization signal (NLS) of hnRNPH2, although the specific pathogenic consequences of these mutat...

Topics

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• Disease Models, Animal
• Epilepsy
• Heterogeneous-Nuclear Ribonucleoproteins
• Mice
• Mutation
• Mutation, Missense
• Neurodevelopmental Disorders
• Seizures

Identifiers and source

Literature Corpus work

2843b253-4f5e-5afc-8286-4fa2a3ce7c5d

DOI

10.1101/2022.03.17.484791