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Article

HNRNPH2 variant linked to intellectual disability disrupts myelination by impairing oligodendrocyte differentiation.

Journal of genetics and genomics = Yi chuan xue bao - 1 May 2026

Jiao Yang, Pan Xingyu, Zhao Jingrong, Teng Xiaoyu, Liao Xiaoyi, Hu Xinyu, Wang Qiu, Zheng Dandan, Pan Yuxiang, Deng Xiaohui, Tan Xinyi, Shi Yun Stone, Zhang Xu, Bao Lan, Wang Bin

Abstract excerpt

Intellectual disability (ID) arises from complex pathogenic mechanisms. Although myelin dysfunction and white matter damage have been implicated, the cellular and molecular mechanisms linking impaired myelination to cognitive deficits remain largely unknown. Here, we identify a de novo heterogeneous nuclear ribonucleoprotein H2 (HNRNPH2) variant, c.638C>T (p.Pro213Leu), in patients with ID. The Hnrnph2P213L...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41443536
DOI: 10.1016/j.jgg.2025.12.006

Genes

HNRNPH2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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