New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.

ABSTRACT:

Background

Nicolaides-Baraitser syndrome (NCBRS) is a neurodevelopmental disorder caused by pathogenic sequence variants in SMARCA2 which encodes the catalytic component of the chromatin remodeling BAF complex. Pathogenic variants in genes that encode epigenetic regulators have been associated with genome-wide changes in DNA methylation (DNAm) in affected individuals termed DNAm signatures.

Methods

Genome-wide DNAm was assessed in whole-blood samples from the individuals with pathogenic SMARCA2 variants and NCBRS diagnosis (n = 8) compared to neurotypical controls (n = 23) using the Illumina MethylationEPIC array. Differential methylated CpGs between groups (DNAm signature) were identified and used to generate a model enabling classification variants of uncertain significanc

SUBMITTER: Chater-Diehl E 

PROVIDER: S-EPMC6617651 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature