Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen-related genes.

ABSTRACT:

Introduction

Variants in collagen-related genes COL1A1, COL3A1, COL5A1 and COL5A2 are associated with Ehlers-Danlos syndrome (EDS), a heterogeneous group of connective tissue disorders strongly associated with increased bleeding. Of patients with incompletely explained bleeding diathesis, a relatively high proportion were shown to harbour at least one heterozygous variant of unknown significance (VUS) in one of these genes, the vast majority without meeting the clinical criteria for EDS.

Aim

To investigate the functional consequences of the identified variants by assessing the formation and degradation of types I, III and V collagen, in addition to plasma levels of ascorbic acid (AA).

Methods

A total of 31 patients harbouring at least one heterozygous VUS in COL1A1, C

SUBMITTER: Fager Ferrari M 

PROVIDER: S-EPMC7894344 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature