Gene/phenotype/disorder under study
FOXG1 (FOXG1 syndrome Orpha# 561854) / SATB2 (SAS, Orpha# 576278)
Abstract
Structural variants (SVs) affecting non-coding regulatory regions are an increasingly recognized cause of neurodevelopmental disorders, but remain challenging to interpret clinically. For several dosage-sensitive neurodevelopmental genes, such as FOXG1 and SATB2, pathogenic SVs that disrupt the non-coding regions surrounding these loci have been described, suggesting that an altered cis-regulatory landscapes can cause disease through misregulation of gene expression. Building on our recent preprint (https://www.medrxiv.org/content/10.1101/2025.03.10.25323301v1), we aim to systematically collect clinical and genomic data on individuals carrying non-coding SVs ((L)P or VUS) in the FOXG1 or SATB2 loci that fall within or perturb the TAD (FOXG1: Hg38:chr14:28268532-29268532 (SATB2: Hg38:chr2:198870383-199870383) and who present with a compatible neurodevelopmental phenotype.
By aggregating cases, we aim to improve genotype–phenotype correlations, refine critical regulatory regions, and facilitate interpretation of non-coding SV in clinical diagnostics
Coordinating clinicians
Bert Callewaert (translational genomics lab) – Bert.Callewaert@Ugent.be
Sarah Vergult (functional genomics lab) – Sarah.Vergult@Ugent.be
Institution
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: Yes
2- Resampling of patients: Yes
3- Linked to a translational/basic research project: Yes