Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
Copyright policy )Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
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.
- Shinshu University Japan
- Health Sciences University of Hokkaido Japan
- Boston Children's Hospital United States
- Japanese Red Cross Medical Center Japan
- University of California, Los Angeles United States
Male, DNA Copy Number Variations, Chromosomal Proteins, Non-Histone, Micrognathism, DNA Helicases, Mutation, Missense, Nuclear Proteins, SMARCB1 Protein, Sequence Analysis, DNA, DNA-Binding Proteins, Face, Intellectual Disability, Humans, Abnormalities, Multiple, Exome, Female, Hand Deformities, Congenital, Cells, Cultured, Neck, Transcription Factors
Male, DNA Copy Number Variations, Chromosomal Proteins, Non-Histone, Micrognathism, DNA Helicases, Mutation, Missense, Nuclear Proteins, SMARCB1 Protein, Sequence Analysis, DNA, DNA-Binding Proteins, Face, Intellectual Disability, Humans, Abnormalities, Multiple, Exome, Female, Hand Deformities, Congenital, Cells, Cultured, Neck, Transcription Factors
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