Targeted gene under study:
ZC4H2 (OMIM #300897)
Abstract
We aim to expand the collection of clinical and molecular/cytogenetic data on patients with ZC4H2 gene anomalies (including Wiacker-Wolff syndrome, Miles-Carpenter syndrome, and ZARD) on a international level. The objective is to compare clinical data and consolidate the phenotypic spectrum based on underlying molecular causes.
In order to complete the clinical observation record, we are particularly interested in brain MRI, muscle MRI, and neuropsychological assessment. If you have patients with ZC4H2 gene anomalies and are interested in participating in this project, please get in touch with us.
Coordinating clinicians
Dr Klaus DIETERICH – kdieterich@chu-grenoble.fr
Dr Xenia LATYPOVA – xenia.latypova@aphp.fr
Institution
Univ. Grenoble Alpes, Inserm U1209, IAB, CHU Grenoble Alpes, Medical Genetics, Grenoble/ France
Université de Paris, UMR7216, Epigenetics and Cell Fate, 75013, Paris, France and Department of Genetics, Robert-Debré University Hospital, AP-HP, France
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No