Clinical Variability of Classical Ehlers–Danlos Syndrome: A Family with Rare COL5A1 Variant and Case-Based Review

Akhiiarova, K.E. Loginova, E.N. Kildiyarova, R.R. Khusainova, R.I. Tyurin, A.V. Clinical Variability of Classical Ehlers–Danlos Syndrome: A Family with Rare COL5A1 Variant and Case-Based Review Ehlers–Danlos syndrome COL5A1 WES NGS joint hypermobility skin hyperelasticity connective tissue diseases hereditary connective tissue diseases Scopus Web of Science Белый список 2026

2026-10-27

https://doi.org/10.3390/ijms27177952 INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES Ehlers–Danlos syndrome (EDS) comprises a heterogeneous group of inherited connective tissue disorders. The 2017 International Classification of EDS delineates 13 subtypes, which are caused by pathogenic variants in 19 distinct genes encoding various collagen types or proteins involved in collagen metabolism. EDS is characterized by considerable clinical variability, both across EDS subtypes and in terms of phenotypic polymorphism and disease severity within individual subtypes. The present study describes a clinical case of classical-type Ehlers–Danlos syndrome segregating across three generations, illustrating the clinical variability observed within a single family carrying a single rare pathogenic variant, NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs). Furthermore, this report clarifies and expands the phenotypic spectrum associated with this specific variant.

https://repo.bashgmu.ru/publication/6183

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