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

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 atroph...

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Autores principales: Foy, Malika, de Mazancourt, Philippe, Bremond Gignac, Dominique, Gillas, Fabrice, Trigui, Nawel, Mekki, Ahmed, Carlier, Robert, Benistan, Karelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9703103/
https://www.ncbi.nlm.nih.gov/pubmed/36447672
http://dx.doi.org/10.1002/ccr3.6338
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author Foy, Malika
de Mazancourt, Philippe
Bremond Gignac, Dominique
Gillas, Fabrice
Trigui, Nawel
Mekki, Ahmed
Carlier, Robert
Benistan, Karelle
author_facet Foy, Malika
de Mazancourt, Philippe
Bremond Gignac, Dominique
Gillas, Fabrice
Trigui, Nawel
Mekki, Ahmed
Carlier, Robert
Benistan, Karelle
author_sort Foy, Malika
collection PubMed
description 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.
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spelling pubmed-97031032022-11-28 Classical Ehlers–Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of COL5A2 Foy, Malika de Mazancourt, Philippe Bremond Gignac, Dominique Gillas, Fabrice Trigui, Nawel Mekki, Ahmed Carlier, Robert Benistan, Karelle Clin Case Rep Case Report 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. John Wiley and Sons Inc. 2022-11-28 /pmc/articles/PMC9703103/ /pubmed/36447672 http://dx.doi.org/10.1002/ccr3.6338 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Foy, Malika
de Mazancourt, Philippe
Bremond Gignac, Dominique
Gillas, Fabrice
Trigui, Nawel
Mekki, Ahmed
Carlier, Robert
Benistan, Karelle
Classical Ehlers–Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of COL5A2
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 Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9703103/
https://www.ncbi.nlm.nih.gov/pubmed/36447672
http://dx.doi.org/10.1002/ccr3.6338
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