Closed
Targeted gene under study
ZNF462 (OMIM 617371)
Abstract
Heterozygous nonsense variants in ZNF462 gene are associated with Weiss-Kruszka syndrome characterized by ptosis, growth retardation, craniofacial malformations, and corpus callosum abnormalities.
We identified a homozygous missense variant in ZNF462 in one patient with a phenotype compatible with Weiss-Kruszka syndrome.
We are looking for other patients with mono- and bi-allelic variations in ZNF462.
Best regards
Coordinating clinicians/researchers
Dr Pauline Marzin – pauline.marzin@aphp.fr
Institution
Service de médecine génomique des maladies rares, hôpital Necker-enfants maladies, Paris, France
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No
- Resampling of patients: No
- Linked to a translational/basic research project: No