Hypermobile Ehlers–Danlos syndrome: A review and a critical appraisal of published genetic research to date
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.
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The genetic basis of hypermobile Ehlers-Danlos syndrome (hEDS) has not been established.
“The exception is hEDS, where the genetic basis has not been established.”
From Hypermobile Ehlers–Danlos syndrome and disorders of the gastrointestinal tract: What the gastroenterologist needs to know (2022) · cites this paper as [8]
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- Authors
- Scicluna, K., Formosa, M. M., Farrugia, R., & Borg, I.
- Affiliations
- University of Malta (MT)
- Corresponding author
- Borg, Isabella
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 2021-07-14
- Volume
- 101
- Issue
- 1
- Pages
- 20-31
- ISSN
- 0009-9163 (ISSN-L)
- 1399-0004
- OpenAlex
- W3181608394
- Cited by
- 20
- References
- 63
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 4 · 2023: 6 · 2022: 3 · 2021: 1
- FWCI
- 0.52
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Keywords
- hypermobile Ehlers-Danlos syndrome, Ehlers-Danlos syndrome, connective tissue diseases, genetic aetiology, tenascin-X, candidate genes, signaling pathways, next-generation sequencing
- MeSH terms
- Ehlers-Danlos Syndrome, Humans, Disease Management, Genetic Predisposition to Disease, Biomedical Research, Genetic Association Studies
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