Journal
CLINICAL GENETICS
Volume 97, Issue 2, Pages 357-361Publisher
WILEY
DOI: 10.1111/cge.13643
Keywords
classical Ehlers-Danlos syndrome; p; (Arg312Cys); vascular involvement
Categories
Funding
- association DAVID
- Association Francaise pour les Syndromes d'Ehlers Danlos (AFSED)
- Fondation pour la Recherche Medicale (FRM)
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Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of connective tissue disorders. Overlapping features including arterial aneurysms/dissections in both classical and vascular EDS are a major challenge in the clinical diagnosis of these subtypes. The COL1A1 p.(Arg312Cys) variant leads to a phenotype of classical EDS with a propensity to arterial complications. Our report describes a two-generation family with one individual presenting with a dissection of the right external iliac artery. The primary suspicion of vascular EDS with the unsatisfactory identification of a COL3A1 benign variant was secondarily readjusted with the identification of COL1A1 p.(Arg312Cys) variant. This raises the question of the association of COL1A1 p.(Arg312Cys) with arterial complications and the need for a gene panel including not only the usual genes tested in search of classical or vascular EDS but also COL1A1.
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