Article

Dominant truncating variants in KAT6A cause two neurodevelopmental disorders with opposite gene regulatory and metabolic changes.

2026-08-14

Abstract excerpt

Arboleda-Tham Syndrome (ARTHS), caused by truncating variants in KAT6A, is currently diagnosed as a single neurodevelopmental syndrome with variable severity of intellectual disability and multi-system findings. Here, we reveal that this clinical stratification reflects fundamentally distinct molecular mechanisms driven by variant position in the gene. Using patient-derived iPSCs and multi-omics profiling, we demo...

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Literature Corpus work: a56c4af9-1e60-5836-9b65-f5ef18f70ff9
DOI: 10.64898/2026.08.11.26358095

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