A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study
Indications for neurodegeneration, following these cytoskeletal perturbations, have been observed in cellular and murine models for the Helsmoortel-Van der Aa syndrome. However, clinical evidence remains unclear due to the young age of patients, limiting long-term studies on the aging brain. Further longitudinal imaging studies combined with histopathological autopsy sections are required to study the impact of an ADNP variant in the brain as patients come to age.
Authors
- Anna Jansen (ORCID: https://orcid.org/0000-0002-3835-2824)
- Dale Annear (ORCID: https://orcid.org/0000-0003-0346-7063)
- Ellen Elinck
- Alexander J.M. Dingemans (ORCID: https://orcid.org/0000-0002-5648-2155)
- Ligia Mateiu (ORCID: https://orcid.org/0000-0002-2655-3581)
- Bert B.A. de Vries (ORCID: https://orcid.org/0000-0002-0000-2917)
- R. Frank Kooy (ORCID: https://orcid.org/0000-0003-2024-0485)
- Claudio Peter D’Incal (ORCID: https://orcid.org/0000-0003-1888-9066)
- Anke Van Dijck (ORCID: https://orcid.org/0000-0002-6713-2943)
- Marije Meuwissen
- Lusine Harutyunyan
Institutions
- Radboud University Nijmegen (NL)
- University of Antwerp (BE)
- Radboud University Medical Center (NL)
- Antwerp University Hospital (BE)
- Province of Antwerp (BE)
Publication Details
- Journal
- Clinical Epigenetics
- Published
- 2025-11-10
- DOI
- https://doi.org/10.1186/s13148-025-01998-7
- Citations
- 1
- Primary Topic
- Neurological diseases and metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.84
Funders
- E-Rare
- Universiteit Antwerpen