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Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.

Clinical genetics - 1 Jun 2026

Chesneau Bertrand, Willems Marjolaine, Bouazzaoui Abdelhakim, Lequeux Léopoldine, Plaisancié Julie, El Chehadeh Salima, Dollfus Hélène, Chassaing Nicolas

Abstract excerpt

The SMARCA4 gene encodes a catalytic subunit of the BRG1/BRM-associated factor complex, which regulates gene expression through chromatin remodeling. Heterozygous missense variants in this gene have been linked to Coffin-Siris syndrome, characterized by intellectual development disorder and various congenital anomalies (distinctive facial features, hypoplastic fifth digits, and malformations of the heart and...

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Coloboma
Eye Abnormalities
Face
Hand Deformities, Congenital
Loss of Function Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41568967
DOI: 10.1111/cge.70143
PMCID: PMC13167633

Genes

SMARCA4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.PMID 41568967Read ↗

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The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?Semantic proximity Read ↗

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Pathogenic variants in<i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental featuresSemantic proximity Read ↗

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