Genetic Causes of Classical Ehlers-Danlos Syndrome: Investigating a Pathogenic Single Nucleotide Variant in the COL5A1 Gene

Abstract

Classical Ehlers-Danlos Syndrome (cEDS) is a rare genetic disorder affecting connective tissue in the body. Common symptoms of classical Ehler’s Danlos syndrome include skin fragility, atrophic scarring, joint instability, and generalized hypermobility. Despite an increasing understanding of cEDS within the medical and scientific community, its complex and multisystem nature can make clinical diagnosis challenging. This paper examines the clinical features, diagnostic criteria, and genetic causes of the disease with a focus on the role of type V collagen and the COL5A1 gene in regards to cEDS. The specific genetic variant investigated in this paper is a single-nucleotide variant in the COL5A1 gene, resulting in a splice donor variant. As more research is conducted on the genetic aspects of cEDS, a better understanding of the clinical manifestations will hopefully provide more treatment and management options for patients