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Article

Beyond Neurodevelopmental Delay: BICRA-Related Coffin-Siris Syndrome 12 with Severe Intestinal Dysmotility and Recurrent Pneumothorax.

Genes - 11 Jan 2026

Wang Hua

Abstract excerpt

BACKGROUND: Coffin-Siris syndrome 12 (CSS12) is a recently described neurodevelopmental disorder caused by heterozygous pathogenic variants in BICRA, a gene encoding a core subunit of the non-canonical BAF (ncBAF) chromatin-remodeling complex. The condition is characterized by developmental delay, hypotonia, hypertrichosis, and joint laxity. However, long-term data remain limited, and systemic manifestations are...

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Source

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Identifiers

PMID: 41595501
DOI: 10.3390/genes17010081
PMCID: PMC12841204

Genes

BICRA
BRD4
BRD9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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