KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders

2026-06-19

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Zain Awamleh

Anthony Chen

Sanaa Choufani

Dmitrijs Rots

Jung Min Ko

Christine M. Armour

Małgorzata J.M. Nowaczyk

Anna C.E. Hurst

William T. Gibson

Doriana Misceo

Eirik Frengen

Petter Strømme

Luca Soliani

Vanda McNiven

Ebba Alkhunaizi

Federica Invernizzi

Sofia Fernandes

Sergio Sousa

Inmaculada Amoros

Stephen W. Scherer

DOI：10.1016/j.gim.2026.102636

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Pathogenic variants in KMT2A and KMT2B, encoding histone H3 lysine 4 methyltransferases, cause distinct neurodevelopmental disorders—Wiedemann-Steiner syndrome (WDSTS) and Dystonia 28 (DYT28), respectively. We generated and validated DNA methylation (DNAm) signatures for both disorders using cohorts with truncating and missense variants.

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders

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