Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome.

ABSTRACT:

Background

Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant disease caused by aberrations in COL3A1, which encodes type III collagen. Sanger sequencing has limitations for diagnosis since exon deletion/duplication and splicing alterations are not uncommon in COL3A1. We report 2 patients with vEDS who were not diagnosed by conventional Sanger sequencing.

Methods

We performed either targeted panel or whole-genome sequencing. Complementary DNA (cDNA) sequencing was performed using cultured skin fibroblasts. Sanger sequencing of DNA was performed for the confirmation of breakpoints in the case of exon deletion. We also evaluated the sensitivity of the splicing prediction tool, SpliceAI.

Results

An exon 27 deletion was suspected on targeted panel sequencing

SUBMITTER: Heo WY 

PROVIDER: S-EPMC10496071 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature