De novo SOX11 mutations cause Coffin-Siris syndrome.
basic_science · Level V
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- Record sourced from PubMed, PMID 24886874.
- Also identified by DOI 10.1038/ncomms5011.
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Abstract
Coffin-Siris syndrome (CSS) is a congenital disorder characterized by growth deficiency, intellectual disability, microcephaly, characteristic facial features and hypoplastic nails of the fifth fingers and/or toes. We previously identified mutations in five genes encoding subunits of the BAF complex, in 55% of CSS patients. Here we perform whole-exome sequencing in additional CSS patients, identifying de novo SOX11 mutations in two patients with a mild CSS phenotype. sox11a/b knockdown in zebrafish causes brain abnormalities, potentially explaining the brain phenotype of CSS. SOX11 is the downstream transcriptional factor of the PAX6-BAF complex, highlighting the importance of the BAF complex and SOX11 transcriptional network in brain development.
Medical subject headings
- Abnormalities, Multiple
- Face
- Hand Deformities, Congenital
- Intellectual Disability
- Micrognathism
- Neck
- SOX Transcription Factors
- SOXC Transcription Factors
- Zebrafish Proteins