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Classical Ehlers‐Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant
Author(s) -
Adham Salma,
DupuisGirod Sophie,
Charpentier Etienne,
Mazzella JeanMichaël,
Jeunemaitre Xavier,
Legrand Anne
Publication year - 2020
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13643
Subject(s) - ehlers–danlos syndrome , medicine , dissection (medical) , arterial dissection , cardiology , surgery
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 .