A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder

• DOI: 10.1002/ccr3.4128
• Publication Date: 2021-06-26T08:47:26Z
• Authors: Malika Foy; Philippe De Mazan...; Corinne Métay; Robert Carlier; Valérie Allamand; Corine Gartioux; Fabrice Gillas; Nawel Miri; Valérie Jobic; Ahmed Mekki; Pascale Richard; Caroline Michot; Karelle Benistan
• Keywords: 0301 basic medicine; Medicine (General); COL1A1; [SDV]Life Sciences [q-bio]; R; 610; Case Reports; Ehlers‐Danlos Syndrome; [SDV] Life Sciences [q-bio]; joint laxity; 03 medical and health sciences; R5-920; Medicine; Ehlers-Danlos Syndrome; hypermobile EDS; connective tissue

AbstractCOL1‐related overlap disorder is a condition, which is not yet considered as part of the 2017 EDS classification. However, it should be investigated as an alternative diagnosis for any patient with hypermobile EDS. This could allow providing appropriate genetic counseling.