Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome.

ABSTRACT:

Background

Ehlers-Danlos syndrome (EDS) is a common non-inflammatory, congenital connective tissue disorder. Classical type (cEDS) EDS is one of the more common forms, typically caused by mutations in the COL5A1 and COL5A2 genes, though causative mutations in the COL1A1 gene have also been described.

Material and methods

The study group included 59 patients of Polish origin, diagnosed with cEDS. The analysis was performed on genomic DNA (gDNA) with NGS technology, using an Illumina sequencer. Thirty-five genes related to connective tissue were investigated. The pathogenicity of the detected variants was assessed by VarSome.

Results

The NGS of 35 genes revealed variants within the COL5A1, COL5A2, COL1A1, and COL1A2 genes

SUBMITTER: Junkiert-Czarnecka A 

PROVIDER: S-EPMC9164033 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature