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Article

Preclinical evaluation of antisense oligonucleotide therapy in a mouse model of HNRNPH2-related neurodevelopmental disorder.

Science translational medicine - 22 Apr 2026

Korff Ane, Yang Xiaojing, Ozdemir Ozan, Samanta Ananya, Wang Yong-Dong, Patni Tushar, Lavado Alfonso J, Kavirayani Anoop Murthy, Ochaba Joseph, Powers Berit, Bennett C Frank, Kim Hong Joo, Taylor J Paul

Abstract excerpt

Mutations in HNRNPH2 cause an X-linked disorder characterized by developmental delay, intellectual disability, motor and gait disturbances, and seizures. Murine models that reproduce key clinical features of HNRNPH2-related neurodevelopmental disorder suggest that it may result from a toxic gain of function of the mutant protein or a complex loss of normal HNRNPH2 function with impaired compensation by its...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42018666
DOI: 10.1126/scitranslmed.adx3491

Genes

HNRNPH2
HNRNPH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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