SWI/SNF complex in disorder

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.

Keywords: :

• SWI/SNF
• chromatin remodeling
• cancer
• intellectual disability
• Coffin-Siris syndrome

Acknowledgments

We would like to thank Thomas Costelloe and Emmelien Aten for their valuable comments on an earlier version of this manuscript. HvA receives funding from the Netherlands Organization for Scientific Research (VIDI and TOP-GO grants) and Human Frontiers Science Program (HFSP-CDA grant).