Article

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

2025-11-22

Abstract excerpt

The role of the cohesin complex depends on the cohesin loader proteins NIPBL and MAU2. While NIPBL variants are a major cause of Cornelia de Lange Syndrome (CdLS), the role of MAU2 in disease is unclear. We describe 18 individuals carrying 15 heterozygous MAU2 variants and demonstrate pathogenicity through functional analyses. MAU2 in-frame variants predominantly impair NIPBL–MAU2 interaction, whereas truncatin...

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Literature Corpus work: 34f775f5-b6dd-5e30-8314-b549a3d61303
DOI: 10.1101/2025.11.16.25339042

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