A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder
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.
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2021-09-01
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| Series: | Clinical Case Reports |
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| Online Access: | https://doi.org/10.1002/ccr3.4128 |
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doaj-bc9b9c0659c04f07a950e25423c47d422021-09-27T07:16:15ZengWileyClinical Case Reports2050-09042021-09-0199n/an/a10.1002/ccr3.4128A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorderMalika Foy0Philippe De Mazancourt1Corinne Métay2Robert Carlier3Valérie Allamand4Corine Gartioux5Fabrice Gillas6Nawel Miri7Valérie Jobic8Ahmed Mekki9Pascale Richard10Caroline Michot11Karelle Benistan12Centre de Référence des Syndromes d'Ehlers‐Danlos Non Vasculaires Hôpital Raymond Poincaré Garches FranceINSERM U1179Université Versailles Saint‐Quentin‐en‐Yvelines Montigny‐le‐Bretonneux FranceSorbonne Université ‐ Inserm UMRS974Centre de Recherche en MyologieGH Pitié‐Salpêtrière Paris FranceINSERM U1179Université Versailles Saint‐Quentin‐en‐Yvelines Montigny‐le‐Bretonneux FranceSorbonne Université ‐ Inserm UMRS974Centre de Recherche en MyologieGH Pitié‐Salpêtrière Paris FranceSorbonne Université ‐ Inserm UMRS974Centre de Recherche en MyologieGH Pitié‐Salpêtrière Paris FranceCentre de Référence des Syndromes d'Ehlers‐Danlos Non Vasculaires Hôpital Raymond Poincaré Garches FranceService de Biochimie et Biologie Moléculaire Hôpital Ambroise ParéAPHP Boulogne‐Billancourt FranceAP‐HPCentre de Génétique Moléculaire et ChromosomiqueUF Cardiogénétique et Myogénétique Moléculaire et CellulaireGH Pitié‐Salpêtrière Paris FranceAPHPGHU Paris‐SaclayDMU Smart ImagingService de radiologie Hôpital Raymond Poincaré Garches FranceAP‐HPCentre de Génétique Moléculaire et ChromosomiqueUF Cardiogénétique et Myogénétique Moléculaire et CellulaireGH Pitié‐Salpêtrière Paris FranceINSERM UMR_S1163Institut des Maladies Génétiques ImagineHôpital Necker Enfants Malades Paris FranceCentre de Référence des Syndromes d'Ehlers‐Danlos Non Vasculaires Hôpital Raymond Poincaré Garches FranceAbstract 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.https://doi.org/10.1002/ccr3.4128COL1A1connective tissueEhlers‐Danlos Syndromehypermobile EDSjoint laxity |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
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 |
| spellingShingle |
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 A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder Clinical Case Reports COL1A1 connective tissue Ehlers‐Danlos Syndrome hypermobile EDS joint laxity |
| author_facet |
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 |
| author_sort |
Malika Foy |
| title |
A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder |
| title_short |
A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder |
| title_full |
A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder |
| title_fullStr |
A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder |
| title_full_unstemmed |
A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder |
| title_sort |
novel col1a1 variant in a family with clinical features of hypermobile ehlers‐danlos syndrome that proved to be a col1‐related overlap disorder |
| publisher |
Wiley |
| series |
Clinical Case Reports |
| issn |
2050-0904 |
| publishDate |
2021-09-01 |
| description |
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. |
| topic |
COL1A1 connective tissue Ehlers‐Danlos Syndrome hypermobile EDS joint laxity |
| url |
https://doi.org/10.1002/ccr3.4128 |
| work_keys_str_mv |
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