What are the Clinical Implications of COL3A1 Mutations?
Mutations in the COL3A1 gene are associated with several connective tissue disorders, the most notable being Ehlers-Danlos syndrome type IV, also known as the vascular type. This condition is characterized by fragile blood vessels, thin skin, and a higher risk of organ rupture. Histologically, tissues from affected individuals may show abnormal collagen fiber organization and reduced tensile strength.
