Targeted gene/syndrome under study:
DPF2 (OMIM 601671), Coffin-Siris syndrome type 7 (OMIM 601671)
Abstract
Coffin-Siris syndrome type 7 (CSS7) is a neurodevelopmental disorder caused by dominant negative variants in the PHD1 or PHD2 domain of the DPF2 gene. We were the first to identify affected individuals with mutations in DPF2. Patients showed borderline to moderate developmental delay/intellectual disability, muscular hypotonia, facial dysmorphism and ectodermal anomalies. We aim to further expand the mutational and clinical spectrum of CSS7 by reporting novel variants and systematically describing the clinical aspects according to the Human Phenotype Oncology. Furthermore, we are aiming to perform methylome analysis.
Coordinating clinicians
Georgia Vasileiou – Georgia.Vasileiou@uk-erlangen.de
Sarah Schuhmann – Sarah.Schuhmann@uk-erlangen.de
Institution
Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: Yes
2- Resampling of patients: No
3- Linked to a translational/basic research project: No