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Gene/phenotype/disorder under study

* 609571 ZINC FINGER PROTEIN 699; ZNF699 

# 619488 DEGCAGS SYNDROME; DEGCAG

Abstract

This is a follow-up project to our previous work regarding the Epigenomic and phenotypic characterization of DEGCAGS syndrome (PMID: 39424669). We wish to extend our cohort and improve our knowledge about the syndrome.

In collaboration with colleagues in Italy, the UK and Germany, we aim to

(a) collect further clinical, imaging and molecular data from affected individuals and their parents, where available,

(b) offer immunological characterization in the affected,

(c) offer Episignature testing, where relevant, for both affected individuals and their parents and

(d) attempt functional studies on possible effect on 3D genome organization and DNA repair/replication/cell senescence, if/where recruiters can obtain cells/fibroblasts.

Supported by grants from the Norwegian National Reference Centre on Rare Diagnoses and the Norwegian Research Council.

Coordinating clinicians

Sofia Douzgou Houge – sofia.douzgou.houge@helse-bergen.no 

Giuliana Giardino – giuliana.giardino@unina.it

Institutions

Haukeland University Hospital, Department of Medical Genetics and the Western Norway

Department of Translational Medical Sciences, Pediatric Section Federico II University, Naples, Italy

Specific requirements beyond clinical data and genotype data sharing:

1- Re-analysis of DNA samples: Y, affected and parents – methylation (if not possible locally)

2- Resampling of patients: Y, affected – characterization of lymphocyte subpopulations (if not possible locally) ; Y, affected and parent(s) – skin biopsy/fibroblasts

3- Linked to a translational/basic research project: Y