De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.

doi:10.1093/brain/awae160

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Article

De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.

Brain : a journal of neurology - 1 Aug 2024

Harel Tamar, Spicher Camille, Scheer Elisabeth, Buchan Jillian G, Cech Jennifer, Folland Chiara, Frey Tanja, Holtz Alexander M, Innes A Micheil, Keren Boris, Macken William L, Marcelis Carlo, Otten Catherine E, Paolucci Sarah A, Petit Florence, Pfundt Rolph, Pitceathly Robert D S, Rauch Anita, Ravenscroft Gianina, Sanchev Rani, Steindl Katharina, Tammer Femke, Tyndall Amanda, Devys Didier, Vincent Stéphane D, Elpeleg Orly, Tora László

Abstract excerpt

Deubiquitination is crucial for the proper functioning of numerous biological pathways, such as DNA repair, cell cycle progression, transcription, signal transduction and autophagy. Accordingly, pathogenic variants in deubiquitinating enzymes (DUBs) have been implicated in neurodevelopmental disorders and congenital abnormalities. ATXN7L3 is a component of the DUB module of the Spt-Ada-Gcn5 acetyltransferase...

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PMID: 38753057
DOI: 10.1093/brain/awae160

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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