The National Center of Genetics team of the LNS has just published a scientific article in the international journal Clinical Genetics, entitled “Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study”.

This work focuses on the characterisation of a new genetic syndrome associated with mutations in the gene BRD4, in order to better understand the molecular causes and clinical consequences of this syndrome. It also provides the knowledge necessary for other medical genetics teams to make this diagnosis, and for all doctors involved in the care of these patients to better understand and manage their specificities, and to offer them personalised and coordinated follow-up.

With the description of this first cohort of patients, this study has made it possible to identify the cardinal signs identifiable in clinical practice, which make it an entity distinct from other cohesinopathies and in particular from Cornelia de Lange syndrome. Finally, for patients, this advance contributes to the fight against diagnostic erraticism in the field of rare diseases.

This new publication was possible thanks to an international collaborative effort, organised by Dr Guillaume Jouret of the National Center of Genetics, thanks in particular to the networks of the European Reference Network ITHACA (https://ern-ithaca.eu/), the AnDDI-Rares health network (http://anddi-rares. org/), and the active participation of teams from Luxembourg (Laboratoire national de santé (LNS), Centre Hospitalier de Luxembourg), England (Royal Devon and Exeter Hospital), the United States (Children’s Hospital Colorado), Italy (Azienda Ospedaliera Universitaria Senese and University of Siena), Belgian (CHU of Liège and Institut de Pathologie et de Genetique, Charleroi) and French (CHU of Dijon, CHU of Nantes, CHU of Grenoble, CHU of Lille, Hôpital Pitié-Salpétrière, Hôpital d’Enfants Armand-Trousseau, Institut Catholique de Lille).

Link to the publication: https://pubmed.ncbi.nlm.nih.gov/35470444/