More than half of children with vascular Ehlers-Danlos syndrome (vEDS) are diagnosed through genetic testing after a family member is found to have the disease, a study found. The remaining patients receive their diagnosis following a serious clinical event that requires medical intervention or due to having certain clinical…

Two new mutations in the COL3A1 gene, the underlying chief cause of vascular Ehlers-Danlos syndrome (vEDS), were discovered after being missed by standard genetic testing, a study reported. “Our study highlights the necessity of a comprehensive approach to the genetic diagnosis of vEDS,” wrote the researchers in “…

A woman with kyphoscoliotic Ehlers-Danlos syndrome (EDS), a rare disease form that causes an abnormally curved spine, went misdiagnosed with Larsen syndrome, which can also cause the spine to curve, for more than 40 years, according to a report. This case in the U.S. highlights the value of genetic testing…

A pre-implantation genetic diagnosis (PGD), used for identifying genetic abnormalities in embryos during in vitro fertilization (IVF), may help women with vascular Ehlers-Danlos syndrome (vEDS) who want children, a recent case report shows. A woman with vEDS successfully used PGD to have two biological children via surrogacy. Neither were…

Using genetic testing, researchers in Japan identified 16 new COL3A1 gene mutations associated with vascular Ehlers-Danlos syndrome (vEDS), according to a recent case series. A range of different types of mutations was identified — each associated with a different level of disease severity and symptoms, or clinical presentation. “This is…

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…

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…

A family in China was found to carry two mutations causing vascular Ehlers-Danlos syndrome (vEDS) over multiple generations, a study reports. The mutations interacted such that their effect was beyond that of each mutation alone. “This is the first report of such a combination ever described to cause vEDS…

A new mutation in the most common gene causing vascular Ehlers–Danlos syndrome (vEDS) — COL3A1 — was found to lead to severe involvement of the joints and muscles, a case study reported. The findings provide insight into mutations causing the disease and expand clinicians’ understanding of “the phenotypic spectrum…

“A correct diagnosis of [classical Ehlers-Danlos syndrome or] cEDS is not always straightforward,” researchers in Belgium concluded in a new study, in which the scientists urged that anyone suspected of having this type of the rare connective tissue disorder undergo a complete clinical examination, followed by genetic testing. Such testing…