BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

Coffin–Siris and Nicolaides–Baraitser syndromes (CSS and NCBRS) are Mendelian disorders caused by mutations in subunits of the BAF chromatin remodeling complex. We report overlapping peripheral blood DNA methylation epi-signatures in individuals with various subtypes of CSS ( ARID1B , SMARCB1 , and SMARCA4 ) and NCBRS ( SMARCA2 ). We demonstrate that the degree of similarity in the epi-signatures of some CSS subtypes and NCBRS can be greater...