A genetic testing technique called next-generation sequencing (NGS) may help unveil unrecognized disease-causing mutations linked with Ehlers-Danlos syndrome (EDS) and related disorders, a Polish study suggests. The study, “Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome,” was published in Current Issues…

Diagnosing and treating a very rare type of Ehlers-Danlos syndrome (EDS) early would help prevent further complications and potentially improve quality of life for patients with the condition, called arthrochalasia EDS (aEDS), a review study reports. However, the similarities between aEDS and other health conditions make it…

A genetic testing technique called whole-exome sequencing (WES) revealed potentially disease-causing mutations in three people with Ehlers-Danlos syndrome (EDS) —  and provided evidence for the patients’ disease type — in a recent study. An accurate diagnosis of a patient’s EDS type is important for appropriate…

Patients with mutations in either the COL1A1 or COL1A2 genes, which provide instructions for making a specific collagen protein, may show symptoms of both Ehlers-Danlos syndrome (EDS) and osteogenesis imperfecta (brittle bone disease), a retrospective study shows. Researchers propose that this overlap is a missing EDS type. The study ”…

Patients with mutations in the COL5A1 and COL1A1 genes that code for collagen proteins have both Ehlers-Danlos syndrome (EDS) and a bone disease called osteogenesis imperfecta (OI), according to a study in a Chinese family. The research, “Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos…