What does this research mean for the field?

The rare pathogenic variant NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs) causes classical Ehlers-Danlos syndrome with significant clinical variability and an expanded phenotypic spectrum even within a single family. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.SUPPORTS_CONSENSUS.

What question did this study set out to answer?

To describe the clinical variability of classical Ehlers–Danlos syndrome across three generations in a family carrying a rare COL5A1 pathogenic variant and review its associated phenotype.

September 8, 2026International Journal of Molecular SciencesOpen Access

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

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Authors

KAKarina E. Akhiiarova ЕЛЕ. Н. Логинова RKR.R. Kildiyarova

Discussion

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Overview

Family case report demonstrates phenotypic variability in classical Ehlers-Danlos syndrome, expanding the clinical spectrum of a rare COL5A1 variant.

Key Points

To describe the clinical variability of classical Ehlers–Danlos syndrome across three generations in a family carrying a rare COL5A1 pathogenic variant and review its associated phenotype.
Clinical and genetic assessment of a three-generation family presenting with classical-type Ehlers–Danlos syndrome.
Identification and evaluation of the rare pathogenic variant NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs) alongside a case-based literature review.
Identified marked phenotypic polymorphism and variable disease severity among family members carrying the identical COL5A1 frameshift variant.
Clarified and expanded the clinical and phenotypic spectrum linked to the rare NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs) variant.

Cite This Study

Akhiiarova et al. (2026) studied this question.

synapsesocial.com/papers/6a9fd7e758e84d0ff5b46f56 https://doi.org/10.3390/ijms27177952

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September 8, 2026International Journal of Molecular SciencesOpen Access

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

View Full Paper

Ask AI

Bookmark

Authors

KAKarina E. Akhiiarova ЕЛЕ. Н. Логинова RKR.R. Kildiyarova

Discussion

Member takes

Overview

Family case report demonstrates phenotypic variability in classical Ehlers-Danlos syndrome, expanding the clinical spectrum of a rare COL5A1 variant.

Key Points

To describe the clinical variability of classical Ehlers–Danlos syndrome across three generations in a family carrying a rare COL5A1 pathogenic variant and review its associated phenotype.
Clinical and genetic assessment of a three-generation family presenting with classical-type Ehlers–Danlos syndrome.
Identification and evaluation of the rare pathogenic variant NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs) alongside a case-based literature review.
Identified marked phenotypic polymorphism and variable disease severity among family members carrying the identical COL5A1 frameshift variant.
Clarified and expanded the clinical and phenotypic spectrum linked to the rare NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs) variant.

Cite This Study

Akhiiarova et al. (2026) studied this question.

synapsesocial.com/papers/6a9fd7e758e84d0ff5b46f56 https://doi.org/10.3390/ijms27177952

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

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