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DC Field | Value | Language |
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dc.contributor.author | Scicluna, Kirsty | - |
dc.contributor.author | Formosa, Melissa Marie | - |
dc.contributor.author | Farrugia, Rosienne | - |
dc.contributor.author | Borg, Isabella | - |
dc.date.accessioned | 2022-04-01T11:15:57Z | - |
dc.date.available | 2022-04-01T11:15:57Z | - |
dc.date.issued | 2022 | - |
dc.identifier.citation | Scicluna, K., Formosa, M. M., Farrugia, R., & Borg, I. (2022). Hypermobile Ehlers–Danlos syndrome: A review and a critical appraisal of published genetic research to date. Clinical Genetics, 101(1), 20-31. | en_GB |
dc.identifier.uri | https://www.um.edu.mt/library/oar/handle/123456789/92734 | - |
dc.description.abstract | The Ehlers–Danlos syndromes (EDS) are a collection of rare hereditary connective tissue disorders with heterogeneous phenotypes, usually diagnosed following clinical examination and confirmatory genetic testing. Diagnosis of the commonest subtype, hypermobile Ehlers–Danlos Syndrome (hEDS), relies solely on a clinical diagnosis since its molecular aetiology remains unknown. We performed an up-to-date literature search and selected 11 out of 304 publications according to a set of established criteria. Studies reporting variants affecting collagen proteins were found to be hindered by cohort misclassification and subsequent lack of reproducibility of these genetic findings. The role of the described variants affecting Tenascin-X and LZTS1 is yet to be demonstrated in the majority of hEDS cases, while the functional implication of associated signaling pathways and genes requires further elucidation. The available literature on the genetics of hEDS is scant, dispersed and conflicting due to out-dated nosology terminology. Recent literature has suggested the role of several promising candidate mechanisms which may be linked to the underlying molecular aetiology. Knowledge of the molecular genetic basis of hEDS is expected to increase in the near future through the mainstream use of high-throughput sequencing combined with the updated classification of EDS, and the upcoming Hypermobile Ehlers– Danlos Genetic Evaluation (HEDGE) study. | en_GB |
dc.language.iso | en | en_GB |
dc.publisher | John Wiley & Sons, Ltd. | en_GB |
dc.rights | info:eu-repo/semantics/restrictedAccess | en_GB |
dc.subject | Ehlers-Danlos syndrome -- Diagnosis | en_GB |
dc.subject | Ehlers-Danlos syndrome -- Treatment | en_GB |
dc.subject | Connective tissues -- Diseases | en_GB |
dc.title | Hypermobile Ehlers–Danlos syndrome : a review and a critical appraisal of published genetic research to date | en_GB |
dc.type | article | en_GB |
dc.rights.holder | The copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder. | en_GB |
dc.description.reviewed | peer-reviewed | en_GB |
dc.identifier.doi | 10.1111/cge.14026 | - |
dc.publication.title | Clinical Genetics | en_GB |
Appears in Collections: | Scholarly Works - FacHScABS |
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File | Description | Size | Format | |
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Hypermobile Ehlers–Danlos syndrome.pdf Restricted Access | 1.44 MB | Adobe PDF | View/Open Request a copy |
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