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Article

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.

American journal of medical genetics. Part A - 1 Sept 2025

Erdogan Esin Nur, Cheng Chi Vicky, Caraffi Stefano G, Ivanovski Ivan, Piatelli Gianluca, Errichiello Edoardo, Papavasiliou Antigone S, Vasileiou Georgia, Reis André, Prince Bradley, Hickey Scott E, Koboldt Daniel C, Schneider Michael C, Porrmann Joseph, Di Donato Nataliya, Leis Thomas, Perry M Scott, Humberson Jennifer, Rotenberg Joshua, Bakhtiari Somayeh, Magee Helen, Kheradmand Shaydah, Kruer Michael C, Swale Andrew, Weber Astrid, Landes Caren, Zuffardi Orsetta, Garavelli Livia, van Haeringen Arie, Ruivenkamp Claudia A L, Pauly Melissa, Au Ping Yee Billie, Dobyns William B, Aldinger Kimberly A

Abstract excerpt

Haploinsufficiency of AUTS2 is associated with a neurodevelopmental disorder characterized by intellectual disability, autistic features, and spasticity. AUTS2 protein interacts with p300, encoded by EP300, through the HX repeat domain of AUTS2, thereby activating transcription. We previously reported two de novo variants in the HX repeat domain of AUTS2. These variants disrupt the AUTS2-P300 interaction,...

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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: 40317680
DOI: 10.1002/ajmg.a.64093
PMCID: PMC12339213

Genes

AUTS2
EP300
CREBBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

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