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The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation.

Human genetics - 1 Aug 2024

Bosch Elisabeth, Güse Esther, Kirchner Philipp, Winterpacht Andreas, Walther Mona, Alders Marielle, Kerkhof Jennifer, Ekici Arif B, Sticht Heinrich, Sadikovic Bekim, Reis André, Vasileiou Georgia

Abstract excerpt

ARID1B is the most frequently mutated gene in Coffin-Siris syndrome (CSS). To date, the vast majority of causative variants reported in ARID1B are truncating, leading to nonsense-mediated mRNA decay. In the absence of experimental data, only few ARID1B amino acid substitutions have been classified as pathogenic, mainly based on clinical data and their de novo occurrence, while most others are currently...

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Abnormalities, Multiple
DNA-Binding Proteins
Face
Hand Deformities, Congenital
Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Protein Aggregates

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PMID: 39028335
DOI: 10.1007/s00439-024-02688-9
PMCID: PMC11303441

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation.PMID 39028335Read ↗

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