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Article

HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations.

Genome research - 1 Jul 2022

Hirsch Naama, Dahan Idit, D'haene Eva, Avni Matan, Vergult Sarah, Vidal-García Marta, Magini Pamela, Graziano Claudio, Severi Giulia, Bonora Elena, Nardone Anna Maria, Brancati Francesco, Fernández-Jaén Alberto, Rory Olson J, Hallgrímsson Benedikt, Birnbaum Ramon Y

Abstract excerpt

Structural variants (SVs) can affect protein-coding sequences as well as gene regulatory elements. However, SVs disrupting protein-coding sequences that also function as cis-regulatory elements remain largely uncharacterized. Here, we show that craniosynostosis patients with SVs containing the histone deacetylase 9 (HDAC9) protein-coding sequence are associated with disruption of TWIST1 regulatory elements that...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35710300
DOI: 10.1101/gr.276196.121
PMCID: PMC9341515

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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HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations.PMID 35710300Read ↗

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