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Article

Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch-Steindl Syndrome.

Molecular genetics & genomic medicine - 1 Jun 2026

Xu Shixuan, Li Guoqiang, He Yimin, Chen Yiyao, Li Lu-Lu, Li Niu, Li Shuyuan, Wang Jian

Abstract excerpt

BACKGROUND: Rauch-Steindl syndrome (RAUST) is a rare neurodevelopmental disorder caused by pathogenic variants in NSD2, a histone methyltransferase gene at 4p16.3. Due to phenotypic overlap with Wolf-Hirschhorn syndrome (WHS), RAUST is often misdiagnosed. Missense variants in NSD2 are particularly challenging to interpret without functional validation. METHODS: Genomic DNA from the proband and her parents was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42216445
DOI: 10.1002/mgg3.70238
PMCID: PMC13238879

Genes

NSD2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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