Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

ABSTRACT:

Purpose

Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and seizures. To date, clinical features have been described for 11 patients with (likely) pathogenic SETD1B sequence variants. This study aims to further delineate the spectrum of the SETD1B-related syndrome based on characterizing an expanded patient cohort.

Methods

We perform an in-depth clinical characterization of a cohort of 36 unpublished individuals with SETD1B sequence variants, describing their molecular and phenotypic spectrum. Selected variants were functionally tested using in vitro and genome-wide methylation assays.

Results

Our data present evidence for a loss-of-function mechanism of SETD1B variants,

SUBMITTER: Weerts MJA 

PROVIDER: S-EPMC8553606 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature