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Article

KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.

Human genetics - 1 Dec 2023

Singh Meghna, Spendlove Sarah J, Wei Angela, Bondhus Leroy M, Nava Aileen A, de L Vitorino Francisca N, Amano Seth, Lee Jacob, Echeverria Gesenia, Gomez Dianne, Garcia Benjamin A, Arboleda Valerie A

Abstract excerpt

Arboleda-Tham Syndrome (ARTHS) is a rare genetic disorder caused by heterozygous, de novo mutations in Lysine(K) acetyltransferase 6A (KAT6A). ARTHS is clinically heterogeneous and characterized by several common features, including intellectual disability, developmental and speech delay, and hypotonia, and affects multiple organ systems. KAT6A is the enzymatic core of a histone-acetylation protein complex;...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 37861717
DOI: 10.1007/s00439-023-02608-3
PMCID: PMC10676314

Genes

KAT6A
HOXC10
HOXC11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.PMID 37861717Read ↗

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