In utero rescue of neurological dysfunction in a mouse model of Wiedemann-Steiner syndrome.

doi:10.1172/jci.insight.187039

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Article

In utero rescue of neurological dysfunction in a mouse model of Wiedemann-Steiner syndrome.

JCI insight - 22 Oct 2025

Reynisdottir Tinna, Anderson Kimberley J, Möller Katrin, Pétursson Stefán, Brinn Andrew, Franklin Katheryn P, Ouyang Juan, Snorradottir Asbjorg O, Lutz Cathleen M, Zuberi Aamir R, DeLeon Valerie B, Bjornsson Hans T

Abstract excerpt

Wiedemann-Steiner syndrome (WDSTS) is a rare genetic cause of intellectual disability that is primarily caused by heterozygous loss-of-function variants in the gene encoding the histone lysine methyltransferase 2A (KMT2A). Prior studies have shown successful postnatal amelioration of disease phenotypes for Rett, Rubinstein-Taybi, and Kabuki syndromes, which are related Mendelian disorders of the epigenetic...

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Topics

Animals
Mice
Disease Models, Animal
Histone-Lysine N-Methyltransferase
Female
Myeloid-Lymphoid Leukemia Protein

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Intellectual Disability

Pregnancy

Phenotype

Craniofacial Abnormalities

Male

Abnormalities, Multiple

Loss of Function Mutation

Mice, Transgenic

Humans

Hypertrichosis

Source

Open in PubMed Open full text

Identifiers

PMID: 40956618
DOI: 10.1172/jci.insight.187039
PMCID: PMC12581663

Genes

KMT2A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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