De novo SOX11 mutations cause Coffin–Siris syndrome
Open Access
- 2 June 2014
- journal article
- research article
- Published by Springer Science and Business Media LLC in Nature Communications
- Vol. 5 (1), 4011
- https://doi.org/10.1038/ncomms5011
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.Keywords
This publication has 26 references indexed in Scilit:
- Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 PatientsHuman Mutation, 2013
- A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodelingHuman Molecular Genetics, 2013
- Coffin–Siris syndrome is a SWI/SNF complex disorderClinical Genetics, 2013
- Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literatureAmerican Journal of Medical Genetics Part A, 2013
- From neural development to cognition: unexpected roles for chromatinNature Reviews Genetics, 2013
- Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndromeNature Genetics, 2012
- Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndromeNature Genetics, 2012
- The crystal structure of the Sox4 HMG domain–DNA complex suggests a mechanism for positional interdependence in DNA recognitionBiochemical Journal, 2012
- Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndromeNature Genetics, 2012
- Predicting Changes in the Stability of Proteins and Protein Complexes: A Study of More Than 1000 MutationsJournal of Molecular Biology, 2002