Targeted gene under study
ZINC FINGER PROTEIN 699; ZNF699 (OMIM* 609571), DEGCAGS SYNDROME; DEGCAGS (OMIM # 619488)
DEGCAGS syndrome (developmental delay with gastrointestinal, cardiovascular, genitourinary and skeletal abnormalities) is caused by biallelic variants in the ZNF699 gene. ZNF699 codes for a large nuclear zinc finger protein, suggesting a genomic regulatory role.
We have collected data on 24 individuals with the condition including 10 previously unpublished cases. Detailed methylation analysis performed in collaboration with Bekim Sadikovic (London, Ontario, Canada) revealed a reproducible episignature.
In an effort to better delineate the epi-geno-phenotype of this rare syndrome, we call for more cases. DNA methylation analysis will be performed for affected individuals.
Supported by the Norwegian rare disease fund grant #43066.
Sofia Douzgou Houge – firstname.lastname@example.org
Denisa Weis – email@example.com
Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway
Department of Medical Genetics, Kepler University Hospital, Linz, Austria
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: Yes (DNA methylation analysis)
- Resampling of patients: No
- Linked to a translational/basic research project: No