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

Malika Foy; Philippe De Mazancourt; Corinne Métay; Robert Carlier; Valérie Allamand; Corine Gartioux; Fabrice Gillas; Nawel Miri; Valérie Jobic; Ahmed Mekki; Pascale Richard; Caroline Michot; Karelle Benistan

doi:10.1002/ccr3.4128

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

Clin Case Rep. 2021 Jun 26;9(9):e04128. doi: 10.1002/ccr3.4128. eCollection 2021 Sep.

Authors

Malika Foy¹, Philippe De Mazancourt^{2

3}, Corinne Métay^{4

5}, Robert Carlier^{2

6}, Valérie Allamand^{4

7}, Corine Gartioux⁴, Fabrice Gillas¹, Nawel Miri³, Valérie Jobic⁵, Ahmed Mekki⁶, Pascale Richard⁵, Caroline Michot^{8

9}, Karelle Benistan^{1

2}

Affiliations

¹ Centre de Référence des Syndromes d'Ehlers-Danlos Non Vasculaires Hôpital Raymond Poincaré Garches France.
² INSERM U1179 Université Versailles Saint-Quentin-en-Yvelines Montigny-le-Bretonneux France.
³ Service de Biochimie et Biologie Moléculaire Hôpital Ambroise Paré APHP Boulogne-Billancourt France.
⁴ Sorbonne Université - Inserm UMRS974 Centre de Recherche en Myologie GH Pitié-Salpêtrière Paris France.
⁵ AP-HP Centre de Génétique Moléculaire et Chromosomique UF Cardiogénétique et Myogénétique Moléculaire et Cellulaire GH Pitié-Salpêtrière Paris France.
⁶ APHP GHU Paris-Saclay DMU Smart Imaging Service de radiologie Hôpital Raymond Poincaré Garches France.
⁷ Unit of Muscle Biology Department of Experimental Medical Science Lund University Lund Sweden.
⁸ INSERM UMR_S1163 Institut des Maladies Génétiques Imagine Hôpital Necker Enfants Malades Paris France.
⁹ Centre de Référence des Syndromes d'Ehlers-Danlos non Vasculaires Hôpital Necker Enfants Malades Paris France.

Abstract

COL1-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.

Keywords: COL1A1; Ehlers‐Danlos Syndrome; connective tissue; hypermobile EDS; joint laxity.

Publication types

Case Reports