Classical Ehlers-Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of COL5A2

Malika Foy; Philippe de Mazancourt; Dominique Bremond Gignac; Fabrice Gillas; Nawel Trigui; Ahmed Mekki; Robert Carlier; Karelle Benistan

doi:10.1002/ccr3.6338

Classical Ehlers-Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of COL5A2

Clin Case Rep. 2022 Nov 28;10(11):e06338. doi: 10.1002/ccr3.6338. eCollection 2022 Nov.

Authors

Malika Foy¹, Philippe de Mazancourt^{2

3}, Dominique Bremond Gignac^{4

5}, Fabrice Gillas¹, Nawel Trigui³, Ahmed Mekki⁶, Robert Carlier^{3

6}, Karelle Benistan^{1

3}

Affiliations

¹ AP-HP, GHU Paris Saclay, Hôpital Raymond Poincaré, Centre de référence des syndromes d'Ehlers-Danlos non vasculaires Garches France.
² AP-HP, GHU Paris Saclay, Hôpital Ambroise Paré, Laboratoire de Biochimie Boulogne Billancourt France.
³ INSERM, U1179, Université Versailles Saint-Quentin-en-Yvelines Montigny-le-Bretonneux France.
⁴ Ophthalmology Department, AP-HP, Hôpital Necker-Enfants Malades CRMR OPHTARA, Paris University Paris France.
⁵ INSERM, UMRS1138, Team 17 Centre de Recherche des Cordeliers, Sorbonne Paris Cité University Paris France.
⁶ AP-HP, GHU Paris-Saclay, Raymond Poincaré Teaching Hospital, DMU Smart Imaging Garches France.

Abstract

We described a novel de novo missense variant of the gene encoding Collagen alpha-2(V) chain, associated with the classical Ehlers-Danlos syndrome (cEDS) (OMIM#130010), in a 14-year-old patient who presented with congenital and severe scoliosis, muscle hypotonia, ocular manifestations, and no atrophic scaring. This case expands the phenotypic spectrum of cEDS.

Keywords: COL5A2; classical Ehlers–Danlos syndrome; kyphoscoliosis; molecular modeling; next generation sequencing.

Publication types

Case Reports