Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.

ABSTRACT:

Purpose

Pathogenic variants in genes involved in the epigenetic machinery are an emerging cause of neurodevelopment disorders (NDDs). Lysine-demethylase 2B (KDM2B) encodes an epigenetic regulator and mouse models suggest an important role during development. We set out to determine whether KDM2B variants are associated with NDD.

Methods

Through international collaborations, we collected data on individuals with heterozygous KDM2B variants. We applied methylation arrays on peripheral blood DNA samples to determine a KDM2B associated epigenetic signature.

Results

We recruited a total of 27 individuals with heterozygous variants in KDM2B. We present evidence, including a shared epigenetic signature, to support a pathogenic classification of 15 KDM2B variants and identify

SUBMITTER: van Jaarsveld RH 

PROVIDER: S-EPMC9825659 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature