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Case report: Characterization of a rare pathogenic variant associated with loss of COL3A1 expression in vascular Ehlers Danlos syndrome.

ABSTRACT: The vascular subtype of Ehlers Danlos Syndrome (vEDS) is a rare connective tissue disorder characterized by spontaneous arterial, bowel or organ rupture. The diagnosis of vEDS is established in a proband by identification of a heterozygous pathogenic variant in the alpha-1 gene of type III collagen (COL3A1) by molecular analysis. In this report, we present a case of vEDS with life threatening, spontaneous arterial dissections in association with an uncharacterized rare variant of COL3A1, exon19:c.1340G > A. Primary culture of patient skin fibroblasts followed by immunofluorescence revealed a complete absence of COL3A1 protein expression as well as altered morphology. Electron microscopy of the cultured fibroblasts showed abnormal vacuoles in the cytoplasm suggestive of a secretory defect. In this study, we have performed functional characterization of the COL3A1 exon19:c.1340G > A variant for the first time and this may now be classified as likely pathogenic in vEDS.

SUBMITTER: Manhas J 

PROVIDER: S-EPMC9595653 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

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Case report: Characterization of a rare pathogenic variant associated with loss of COL3A1 expression in vascular Ehlers Danlos syndrome.

Manhas Janvie J   Lohani Lov Raj LR   Seethy Ashikh A   Kumar Uma U   Gamanagatti Shivanand S   Sen Sudip S  

Frontiers in cardiovascular medicine 20221011

The vascular subtype of Ehlers Danlos Syndrome (vEDS) is a rare connective tissue disorder characterized by spontaneous arterial, bowel or organ rupture. The diagnosis of vEDS is established in a proband by identification of a heterozygous pathogenic variant in the alpha-1 gene of type III collagen (<i>COL3A1</i>) by molecular analysis. In this report, we present a case of vEDS with life threatening, spontaneous arterial dissections in association with an uncharacterized rare variant of <i>COL3A  ...[more]

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