PT - JOURNAL ARTICLE
AU - Akhiiarova, K.E., 
AU - Loginova, E.N., 
AU - Kildiyarova, R.R., 
AU - Khusainova, R.I., 
AU - Tyurin, A.V., 
TI - Clinical Variability of Classical Ehlers–Danlos Syndrome: A Family with Rare COL5A1 Variant and Case-Based Review
DP - 2026-10-27
TA - INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
4100 - https://doi.org/10.3390/ijms27177952
SO - https://repo.bashgmu.ru/publication/6183
AB - 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.