Key result
Novel COL5A1 variant linked to prominent vascular and cardiac features resembling vascular EDS.
Why the study?
To describe a patient presenting with a phenotype resembling vascular EDS caused by a novel pathogenic variant in COL5A1.
Case Report (n=1)
A novel pathogenic variant in COL5A1 can present with a phenotype resembling vascular Ehlers-Danlos Syndrome, highlighting the potential for prominent vascular and cardiac features in classical EDS subtypes.
Answers are grounded in this paper and cite their sources.
Single-case finding warrants diagnostic caution; leaves open whether COL5A1 variants can produce vEDS-like phenotypes pending replication.
The Ehlers-Danlos Syndromes (EDS) are a group of inherited connective tissue disorders with a worldwide prevalence of 1 in 2500 to 1 in 5000 births irrespective of sex or ethnicity. Fourteen subtypes of Ehlers-Danlos Syndrome (EDS) have been described, each with characteristic phenotypes and associated genes. Pathogenic variants in COL5A1 and COL5A2 cause the classical EDS subtypes. Pathogenic variants in COL3A1 cause vascular EDS. In this case report, we describe a patient with a phenotype resembling that of vascular EDS, caused by a novel pathogenic variant in COL5A1.
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Lavanya et al. (2022) conducted a case report in Ehlers-Danlos Syndrome (n=1). Novel pathogenic variant in COL5A1 was evaluated on Phenotype resembling vascular EDS. A novel pathogenic variant in COL5A1 was identified in a patient exhibiting prominent vascular and cardiac features resembling vascular Ehlers-Danlos Syndrome.
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