Journal
NATURE GENETICS
Volume 44, Issue 4, Pages 376-378Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2219
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Funding
- Ministry of Health, Labour and Welfare
- Japan Science and Technology Agency
- Strategic Research Program for Brain Sciences
- Japan Epilepsy Research Foundation
- Takeda Science Foundation
- (Foundation of Synapse and Neurocircuit Pathology) from the Ministry of Education, Culture, Sports, Science and Technology of Japan
- Japan Society for the Promotion of Science
- Yokohama City University
- Grants-in-Aid for Scientific Research [23591506, 23689052, 24118007, 23390275, 24591500, 24118001, 24118005, 21390104, 22790823] Funding Source: KAKEN
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By exome sequencing, we found de novo SMARCB1 mutations in two of five individuals with typical Coffin-Siris syndrome (CSS), a rare autosomal dominant anomaly syndrome. As SMARCB1 encodes a subunit of the SWItch/Sucrose NonFermenting (SWI/SNF) complex, we screened 15 other genes encoding subunits of this complex in 23 individuals with CSS. Twenty affected individuals (87%) each had a germline mutation in one of six SWI/SNF subunit genes, including SMARCB1, SMARCA4, SMARCA2, SMARCE1, ARID1A and ARID1B.
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