NSD1 Mutations Generate a Genome-Wide DNA Methylation Signature

ABSTRACT: Sotos syndrome (SS) represents an important human model system for the study of epigenetic regulation; it is an overgrowth/intellectual disability syndrome caused by mutations in a histone methyltransferase, NSD1. As layered epigenetic modifications are often interdependent, we propose that pathogenic NSD1 mutations have a genome-wide impact on the most stable epigenetic mark, DNA methylation (DNAm). By interrogating DNAm in SS patients, we identify a genome-wide, highly significant NSD1+/- specific signature that differentiates pathogenic NSD1 mutations from controls, benign NSD1 variants and the clinically overlapping Weaver syndrome. Validation studies of independent cohorts of SS and controls assigned 100% of these samples correctly. This highly specific and sensitive NSD1+/- specifi

ORGANISM(S): Homo sapiens

SUBMITTER: Rosanna Weksberg 

PROVIDER: E-GEOD-74432 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress