Scientists finally may have discovered a gene mutation that associates with hypermobile Ehlers-Danlos syndrome (hEDS) — and their findings, eagerly awaited by the hEDS patient community, are expected to be written up within the next six months, they said. While known mutations are linked with various EDS subtypes, hEDS cases…

Scientists have identified a set of new genetic mutations as the likely cause of bone fractures during the embryonic development of a baby born to a woman with hypermobile Ehlers-Danlos syndrome (hEDS). One of the mutations was found in the CCDC134 gene, which had been previously linked with bone fragility. These…

A new mutation causing classical Ehlers-Danlos syndrome (EDS) has been identified in a child whose parents did not carry the mutation. The mutation is of a type known to cause more severe symptoms. The case report, “Glycine substitution mutation of COL5A1 in classic Ehlers–Danlos syndrome: a case report…

Two newly identified mutations in the DSE gene are associated with musculocontractural Ehlers-Danlos syndrome (mcEDS) in three people from two families in Turkey and India. Combined data from this case report and previous reports of mcEDS patients suggest that DSE mutations are associated with lower symptom burden than mutations in the…

Despite similar clinical symptoms among kyphoscoliotic Ehlers-Danlos syndrome (kEDS) patients carrying mutations in the PLOD1 or FKBP14 genes, the molecular pathways underlying the disease may be different in each case, according to a new study. The study, “Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1-…

Investigations into two newly developed mouse models that mimic the pathology, or typical behavior of vascular Ehlers-Danlos syndrome (vEDS) have revealed that alterations in collagen production and signaling pathways underlie the connective tissue disorder. Blocking these signaling pathways protected…

A type of abnormal communication between the main blood vessels in the head, called carotid-cavernous fistula, may be the first manifestation of vascular Ehlers-Danlos syndrome (vEDS) among seemingly healthy young individuals, researchers reported in a recent study. The study, “Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos…

Patients with vascular Ehlers-Danlos syndrome (EDS) can, in rare cases, develop cardiomyopathy — a condition affecting the heart muscle — possibly due to mutations in the  COL3A1 gene, according to a new case report. The report, “A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system…

Variants in the AEBP1 gene were identified as the cause of a form of Ehlers-Danlos syndrome in four people from three unrelated families, researchers report. The study, “Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome,” was published in the The…

Mutations in the gene COL3A1, responsible for the development of vascular Ehlers-Danlos syndrome (vEDS), are associated with alterations in several structural proteins, according to researchers. The study, “Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome,” was…