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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 for 30 of the 59 patients investigated. Our panel detected no sequence variations for the remaining 29 patients.

Discussion

Next-generation sequencing, with an appropriate multigene panel, showed great potential to assist in the diagnosis of EDS and other connective tissue disorders. Our data also show that not all causative genes giving rise to cEDS have been elucidated yet.

SUBMITTER: Junkiert-Czarnecka A 

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

REPOSITORIES: biostudies-literature

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

Junkiert-Czarnecka Anna A   Pilarska-Deltow Maria M   Bąk Aneta A   Heise Marta M   Latos-Bieleńska Anna A   Zaremba Jacek J   Bartoszewska-Kubiak Alicja A   Haus Olga O  

Current issues in molecular biology 20220325 4

<h4>Background</h4>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 <i>COL5A1</i> and <i>COL5A2</i> genes, though causative mutations in the <i>COL1A1</i> gene have also been described.<h4>Material and methods</h4>The study group included 59 patients of Polish origin, diagnosed with cEDS. The analysis was performed on genomic DNA (gDNA) with NGS technol  ...[more]

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