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Article

Wiedemann-Steiner Syndrome (WSS): A Neonatal Case Report Expanding the Phenotypic Spectrum of a Previously Reported Missense Variant.

International journal of molecular sciences - 7 May 2026

Poulou Myrto, Kamilari Thessalia, Nikaina Eirini, Dikoglou-Tzanetatou Eleftheria, Kanaka-Gantenbein Christina, Kolialexi Aggeliki, Siahanidou Tania

Abstract excerpt

We present a neonatal case of Wiedemann-Steiner syndrome (WSS) with a de novo, previously reported KMT2A missense variant (c.3464G>A; p.Cys1155Tyr; NM_001197104.2), and provide a focused literature review of this specific variant. WSS (OMIM#605130) is a rare neurodevelopmental disorder caused by heterozygous variants in the KMT2A gene, which encodes a histone H3 lysine K4 (H3K4) methyltransferase involved in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42196149
DOI: 10.3390/ijms27104163
PMCID: PMC13206532

Genes

KMT2A

Variants

Provenance

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

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