Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome.

ABSTRACT:

Purpose

Wolf-Hirschhorn syndrome (WHS), a contiguous gene syndrome caused by heterozygous deletions of the distal short arm of chromosome 4 that includes NSD2, reportedly causes specific DNA methylation signatures in peripheral blood cells. However, the genomic loci responsible for these signatures have not been elucidated. The present study aims to define the loci underlying WHS-related DNA methylation signatures and explore the role of NSD2 in these signatures.

Methods

We conducted genome-wide methylation analysis of individuals with WHS or NSD2 variants using an array method. We studied genome-edited knockin mice and induced pluripotent stem cells to explore the function of NSD2 variants.

Results

Three undiagnosed cases with NSD2

SUBMITTER: Kawai T 

PROVIDER: S-EPMC11613750 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature