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March 1, 2024Molecular Genetics & Genomic MedicineOpen Access

Aberrant splicing caused by a novel KMT2A variant in Wiedemann–Steiner syndrome

Jianing Niu Xiaoming Teng Junyu Zhang

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Abstract

Wiedemann-Steiner syndrome (WSS) is a rare autosomal-dominant disorder caused by KMT2A variants. The aim of this study was to characterize a novel KMT2A variant in a child with WSS and demonstrate integrated diagnostic approaches.

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Cite This Study

Niu et al. (2024) studied this question.

synapsesocial.com/papers/68e7634db6db6435876d97ce https://doi.org/10.1002/mgg3.2415

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Wiedemann–Steiner Syndrome (WSS): A Neonatal Case Report Expanding the Phenotypic Spectrum of a Previously Reported Missense VariantCase Report · 2026
2Wiedemann‑Steiner syndrome in a 2‑year‑old patient due to a rare nonsense KMT2A mutation of de novo origin: A case reportCase Report · 2024 · 1 citations
3Heterozygous frameshift KMT2A variant in a patient with Wiedemann–Steiner syndromeOriginal Research · 2026
4Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum2025
5Characterization of a WAS splice-site variant in a patient with Wiskott-Aldrich syndromeOriginal Research · 2025 · 2 citations

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