title: SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.
abstract: Heterozygous germline mutations in components of switch/sucrose nonfermenting (SWI/SNF) chromatin remodeling complexes were recently identified in patients with non-syndromic intellectual disability, Coffin-Siris syndrome and Nicolaides-Baraitser syndrome. The common denominator of the phenotype of these patients is severe intellectual disability and speech delay. Somatic and germline mutations in SWI/SNF components were previously implicated in tumor development. This raises the question whether patients with intellectual disability caused by SWI/SNF mutations in the germline are exposed to an increased risk of developing cancer. Here we compare the mutational spectrum of SWI/SNF components in intellectual disability syndromes and cancer, and discuss the implications of the results of this comparison for the patients.
authors.affiliation: Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. santen@lumc.nl
authors.forename: Gijs W E
authors.initials: GW
authors.lastname: Santen
authors.forename: Marjolein
authors.initials: M
authors.lastname: Kriek
authors.forename: Haico
authors.initials: H
authors.lastname: van Attikum
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D042002:Chromatin Assembly and Disassembly; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D019066:Facies; D005532:Foot Deformities, Congenital / Q000235:genetics*; D005812:Genes, Switch; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D007805:Language Development Disorders / Q000235:genetics; D008844:Micrognathism / Q000235:genetics*; D009333:Neck / Q000002:abnormalities; D009369:Neoplasms / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D014157:Transcription Factors