Article

ASXL3 truncating patient variants mediate transcriptional gain-of-function and are antisense oligonucleotide-responsive

2026-07-22

Abstract excerpt

Truncating variants in the human Additional sex combs (asx) ASXL genes are frequent in clonal hematopoiesis and severe dominant neurodevelopmental syndromes, yet are assumed to represent loss-of-function (LOF) alleles. However, numerous LOF alleles are documented in healthy individuals. Here we show ASXL3 patient truncations in neurodevelopmental condition Bainbridge-Ropers syndrome (BRS), by virtue of their disti...

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Literature Corpus work: 8184ca9b-bfcd-5a7d-bbf0-f1e338e48346
DOI: 10.64898/2026.07.20.26358515

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