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Article

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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Source

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Identifiers

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

Genes

SMARCA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

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

Title：Testicular yolk sac tumor in Coffin-Siris syndrome with a missense mutation in SMARCA4Semantic proximity Read ↗

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Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis.Semantic proximity Read ↗

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

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.Semantic proximity Read ↗

Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.Semantic proximity Read ↗

Numerous BAF complex genes are mutated in Coffin-Siris syndrome.Semantic proximity Read ↗

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SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.Semantic proximity Read ↗

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

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