Targeted gene under study:
ZFHX3 (OMIM # 104155)
Abstract
ZFHX3 is a zinc-finger homeodomain transcription factor involved in various biological processes, including cell differentiation and tumorigenesis. We previously identified 42 individuals with protein-truncating variants (PTVs) or (partial) deletions of ZFHX3, exhibiting variable intellectual disability and autism spectrum disorder, recurrent facial features, relative short stature, brachydactyly, and, rarely, cleft palate. ZFHX3 LoF associates with a specific methylation profile in whole blood extracted DNA.
Several clinical observations have been occasionally observed, but not confirmed. We are preparing to report a second cohort of individuals and families with ZFHX3 LOF variants to delineate the clinical spectrum and optimize management. In addition we aim to refine the epigenetic signature.
Coordinating clinician
Bert Callewaert – Bert.Callewaert@UGent.be
Institutions
Center for Medical Genetics, Ghent University Hospital
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: Yes
2- Resampling of patients: No
3- Linked to a translational/basic research project: Yes