TGFBR1 Gene
The TGFBR1 gene provides instructions for making a protein called transforming growth factor-beta (TGF-β) receptor type 1. The transforming growth factor-beta family of polypeptides (TGF-beta1-3) are involved in the regulation of cellular processes, including division, differentiation, motility, adhesion and death. Up to 25% of individuals with a clinical diagnosis of LDS have TGFBR1 mutations. Mutations in TGFBR1 have also been identified in patients with a clinical diagnosis of Ehlers-Danlos syndrome (vascular type), Marfan syndrome and familial thoracic aortic aneurysm. A mutation in the TGFBR1 gene (c. 1043G>A, p.(Cys348Tyr) is pathogenic.
