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1. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Author

Kazuhiro Ogata, Tohru Ohta, Satoru Sakazume, Shoji Yano, Takuma Ishii, Hiroshi Doi, Takanori Yamagata, Takeshi Mizuguchi, Naomichi Matsumoto, Tomoki Kosho, Noriko Miyake, Mitsuhiro Kato, Keiko Wakui, Masaaki Shiina, Seiji Mizuno, Norio Niikawa, Tomomi Homma, Tadashi Kaname, Yoko Hiraki, Toshiro Nagai, Yumiko Hibi-Ko, Hirofumi Ohashi, Ippei Okada, Yoshinori Tsurusaki, Hirotomo Saitsu, Nobuhiko Okamoto, Satoko Miyatake, Kenji Naritomi, Hiroshi Kawame, Yoshimitsu Fukushima, and Yoko Imai

Subjects
Male, DNA Copy Number Variations, ARID1A, Chromosomal Proteins, Non-Histone, cells, Micrognathism, genetic processes, Mutation, Missense, macromolecular substances, Biology, Germline mutation, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, Exome, SMARCB1, Coffin–Siris syndrome, Cells, Cultured, Exome sequencing, SWI/SNF complex, DNA Helicases, Nuclear Proteins, SMARCB1 Protein, Sequence Analysis, DNA, medicine.disease, Molecular biology, DNA-Binding Proteins, enzymes and coenzymes (carbohydrates), Face, SMARCA4, Female, biological phenomena, cell phenomena, and immunity, Hand Deformities, Congenital, Neck, Transcription Factors
Abstract

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.

Published
2012
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2. Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature

Author

Norio Niikawa, Tomomi Homma, Hirofumi Ohashi, Nobuhiko Okamoto, Tohru Ohta, Yoshinori Tsurusaki, Shoji Yano, Takanori Yamagata, Yumiko Hibi-Ko, Takeshi Mizuguchi, Yoko Narumi, Seiji Mizuno, Mitsuhiro Kato, Kenji Naritomi, Hiroshi Kawame, Tadashi Kaname, Naomichi Matsumoto, Yoshimitsu Fukushima, Satoru Sakazume, Yoko Hiraki, Keiko Wakui, Yoko Imai, Saori Tanabe, Satoko Miyatake, Hirotomo Saitsu, Tomoki Kosho, Takuma Ishii, Toshiro Nagai, and Noriko Miyake

Subjects
Male, ARID1A, Foot Deformities, Congenital, Chromosomal Proteins, Non-Histone, Micrognathism, Biology, medicine.disease_cause, Hypotrichosis, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, SMARCB1, Coffin–Siris syndrome, Genetics (clinical), Genetic Association Studies, Mutation, SWI/SNF complex, DNA Helicases, Facies, Nuclear Proteins, SMARCB1 Protein, Syndrome, medicine.disease, Chromatin Assembly and Disassembly, Hypoplasia, DNA-Binding Proteins, Nicolaides–Baraitser syndrome, Face, SMARCA4, Female, Hand Deformities, Congenital, Neck, Transcription Factors
Abstract

Mutations in the components of the SWItch/sucrose nonfermentable (SWI/SNF)-like chromatin remodeling complex have recently been reported to cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome (NCBRS), and ARID1B-related intellectual disability (ID) syndrome. We detail here the genotype-phenotype correlations for 85 previously published and one additional patient with mutations in the SWI/SNF complex: four with SMARCB1 mutations, seven with SMARCA4 mutations, 37 with SMARCA2 mutations, one with an SMARCE1 mutation, three with ARID1A mutations, and 33 with ARID1B mutations. The mutations were associated with syndromic ID and speech impairment (severe/profound in SMARCB1, SMARCE1, and ARID1A mutations; variable in SMARCA4, SMARCA2, and ARID1B mutations), which was frequently accompanied by agenesis or hypoplasia of the corpus callosum. SMARCB1 mutations caused "classical" CSS with typical facial "coarseness" and significant digital/nail hypoplasia. SMARCA4 mutations caused CSS without typical facial coarseness and with significant digital/nail hypoplasia. SMARCA2 mutations caused NCBRS, typically with short stature, sparse hair, a thin vermillion of the upper lip, an everted lower lip and prominent finger joints. A SMARCE1 mutation caused CSS without typical facial coarseness and with significant digital/nail hypoplasia. ARID1A mutations caused the most severe CSS with severe physical complications. ARID1B mutations caused CSS without typical facial coarseness and with mild digital/nail hypoplasia, or caused syndromic ID. Because of the common underlying mechanism and overlapping clinical features, we propose that these conditions be referred to collectively as "SWI/SNF-related ID syndromes".

Published
2012

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