A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells

Awamleh, Zain; Choufani, Sanaa; Wu, Wendy; Rots, Dmitrijs; J.M. Dingemans, Alexander; Nadif Kasri, Nael; Boronat, Susana; Ibáñez‐Micó, Salvador; Cuesta Herraiz, Laura; Ferrer, Irene; Martínez Carrascal, Antonio; A. Pérez‐Jurado, Luis; Aznar‐Laín, Gemma; Darío Ortigoza‐Escobar, Juan; B.A. de Vries, Bert; A. Koolen, David; Weksberg, Rosanna

doi:10.1038/s41431-024-01538-6

Public

A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells

Published in European Journal of Human Genetics • Jan 29, 2024

Authors:

Zain Awamleh

Sanaa Choufani

Wendy Wu

Abstract

Pathogenic variants in KANSL1 and 17q21.31 microdeletions are causative of Koolen-de Vries syndrome (KdVS), a neurodevelopmental syndrome with characteristic facial dysmorphia. Our previous work has shown that syndromic conditions caused by pathogenic variants in epigenetic regulatory genes have ide...

Subject

dNaM

Biology

Epigenetics

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