Targeted gene under study:

RBBP4 (no OMIM number)


The nucleosome remodeling and deacetylase (NuRD) complex modulates gene expression important for pluripotency, lineage commitment, and corticogenesis. De novo variants in CHD3 (Snijders Blok-Campeau syndrome), CHD4 (Sifrim-Hitz-Weiss syndrome), CHD5 (Parenti-Mignot neurodevelopmental syndrome), and GATAD2B (GAND syndrome), that encode NuRD complex subunits, are associated with overgrowth and neurodevelopmental disorders, and have been coined the term NuRDopathies.

The RB binding protein 4 (RBBP4) gene codes for a histone-binding protein that plays a role in the NuRD complex, but also CAF-1 and PRC2 complexes. The phenotype associated with pathogenic RBBP4 variants is unknown.

We are looking for patients with de novo RBBP4 variants.

Collaborations are ongoing to perform gestalt pattern studies, methylation studies, in vitro analysis and in vivo analysis (fly model)

Coordinating clinicians

Tanguy Demaret –

Philippe Campeau


Centre de Génétique Humaine, Institut de Pathologie et Génétique, Gosselies, Belgium

Medical Genetics unit, CHU Sainte-Justine, Montréal, Canada

Specific requirements beyond clinical data and genotype data sharing:

1- Re-analysis of DNA samples: Yes (but not mandatory)

2- Resampling of patients: No, stored DNA is ok (but not mandatory)

3- Linked to a translational/basic research project: Yes