Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.

ABSTRACT:

Background

A neurodevelopmental syndrome was recently reported in four patients with SOX4 heterozygous missense variants in the high-mobility-group (HMG) DNA-binding domain. The present study aimed to consolidate clinical and genetic knowledge of this syndrome.

Methods

We newly identified 17 patients with SOX4 variants, predicted variant pathogenicity using in silico tests and in vitro functional assays and analysed the patients' phenotypes.

Results

All variants were novel, distinct and heterozygous. Seven HMG-domain missense and five stop-gain variants were classified as pathogenic or likely pathogenic variant (L/PV) as they precluded SOX4 transcriptional activity in vitro. Five HMG-domain and non-HMG-domain missense variants were classified as of uncer

SUBMITTER: Angelozzi M 

PROVIDER: S-EPMC9433470 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature