Gene/phenotype/disorder under study
OMIM: 611386; ORPHA: 404448
Abstract
Helsmoortel–Van der Aa syndrome (HVDAS) is a rare but increasingly recognized
neurodevelopmental disorder caused by pathogenic variants in the Activity-Dependent Neuroprotective Protein (ADNP) gene. Since the first diagnosis of HVDAS in 2014 by our team at the University (Hospital) of Antwerp, ADNP has emerged as one of the most frequently mutated genes identified through whole-exome sequencing in individuals with autism spectrum disorder (ASD) and intellectual disability (ID).
We are conducting an international research project aimed at refining the clinical and molecular characterization of HVDAS through an integrated approach combining systematic phenotyping, brain MRI review, and epigenetic profiling.
We invite members of the ERN ITHACA network to collaborate by contributing clinical data, previously acquired brain MRI scans, blood samples for epigenetic analysis, or by facilitating contact with affected individuals and families. Participation does not require contribution of all data types; partial datasets are welcome and highly valuable.
Coordinating clinicians
Marije Meuwissen
Lusine Harutyunyan – lusine.harutyunyan@uantwerpen.be
Institution
Center Medical Genetics, University Hospital Antwerp, Antwerp, Belgium
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: Yes
3- Linked to a translational/basic research project: Yes