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Article

A Coffin-Siris syndrome-associated mutation modeled in Caenorhabditis elegans affects multiple developmental processes.

G3 (Bethesda, Md.) - 12 Nov 2025

Baccas Marissa, Liu Jun

Abstract excerpt

Coffin-Siris syndrome (CSS) is a rare human genetic disorder that is characterized by developmental delay, fifth digit abnormalities, and craniofacial defects. Heterozygous mutations in 2 SoxC proteins, SOX4 and SOX11, are associated with this disorder. Caenorhabditis elegans has a single SoxC protein, SEM-2, which is essential for development. In this study, we use C. elegans as a model system to explore the...

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Source

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Identifiers

PMID: 40832700
DOI: 10.1093/g3journal/jkaf194
PMCID: PMC12608072

Genes

SOX11
SOX4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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