Classical Ehlers–Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of COL5A2
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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2022-11-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.6338 |
| _version_ | 1811209476346216448 |
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| author | Malika Foy Philippe deMazancourt Dominique Bremond Gignac Fabrice Gillas Nawel Trigui Ahmed Mekki Robert Carlier Karelle Benistan |
| author_facet | Malika Foy Philippe deMazancourt Dominique Bremond Gignac Fabrice Gillas Nawel Trigui Ahmed Mekki Robert Carlier Karelle Benistan |
| author_sort | Malika Foy |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-12T04:38:49Z |
| format | Article |
| id | doaj.art-55177b8865a34caf8d28f756301e46df |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-04-12T04:38:49Z |
| publishDate | 2022-11-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-55177b8865a34caf8d28f756301e46df2022-12-22T03:47:42ZengWileyClinical Case Reports2050-09042022-11-011011n/an/a10.1002/ccr3.6338Classical Ehlers–Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of COL5A2Malika Foy0Philippe deMazancourt1Dominique Bremond Gignac2Fabrice Gillas3Nawel Trigui4Ahmed Mekki5Robert Carlier6Karelle Benistan7AP‐HP, GHU Paris Saclay, Hôpital Raymond Poincaré, Centre de référence des syndromes d'Ehlers‐Danlos non vasculaires Garches FranceAP‐HP, GHU Paris Saclay, Hôpital Ambroise Paré, Laboratoire de Biochimie Boulogne Billancourt FranceOphthalmology Department, AP‐HP, Hôpital Necker‐Enfants Malades CRMR OPHTARA, Paris University Paris FranceAP‐HP, GHU Paris Saclay, Hôpital Raymond Poincaré, Centre de référence des syndromes d'Ehlers‐Danlos non vasculaires Garches FranceINSERM, U1179, Université Versailles Saint‐Quentin‐en‐Yvelines Montigny‐le‐Bretonneux FranceAP‐HP, GHU Paris‐Saclay, Raymond Poincaré Teaching Hospital, DMU Smart Imaging Garches FranceINSERM, U1179, Université Versailles Saint‐Quentin‐en‐Yvelines Montigny‐le‐Bretonneux FranceAP‐HP, GHU Paris Saclay, Hôpital Raymond Poincaré, Centre de référence des syndromes d'Ehlers‐Danlos non vasculaires Garches FranceAbstract 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.https://doi.org/10.1002/ccr3.6338classical Ehlers–Danlos syndromeCOL5A2kyphoscoliosismolecular modelingnext generation sequencing |
| spellingShingle | Malika Foy Philippe deMazancourt Dominique Bremond Gignac Fabrice Gillas Nawel Trigui Ahmed Mekki Robert Carlier Karelle Benistan Classical Ehlers–Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of COL5A2 Clinical Case Reports classical Ehlers–Danlos syndrome COL5A2 kyphoscoliosis molecular modeling next generation sequencing |
| title | Classical Ehlers–Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of COL5A2 |
| title_full | Classical Ehlers–Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of COL5A2 |
| title_fullStr | Classical Ehlers–Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of COL5A2 |
| title_full_unstemmed | Classical Ehlers–Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of COL5A2 |
| title_short | Classical Ehlers–Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of COL5A2 |
| title_sort | classical ehlers danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of col5a2 |
| topic | classical Ehlers–Danlos syndrome COL5A2 kyphoscoliosis molecular modeling next generation sequencing |
| url | https://doi.org/10.1002/ccr3.6338 |
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