Targeted gene and syndrome under study:
DDR2 (OMIM # 618175)
Abstract
We wish to report cases of Warburg-Cinotti syndrome (WCS), caused by activating mutations of DDR2 (6 cases described to date). Joint contractures, skin fusions, corneal vascularization, acro-osteolysis, thickened skin, keloid plaques, ulcerations and skin infections characterize the syndrome. We are considering treating a new patient with a severe and progressive form of the disease with Dasatinib. We would be delighted to join forces with our colleagues who have described the syndrome. Please do not hesitate to contact us.
Coordinating clinician
Pr Patrick EDERY – patrick.edery@chu-lyon.fr
Institution
Hospices Civils de Lyon, service de Génétique et CRMR CLAD Sud-Est, Filière AnDDI-Rares, ERN ITHACA
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