Defective B4GALT7 causes EDS, progeroid type

Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen types I or III. Abnormal collagen renders connective tissues more elastic. The severity of the mutation can vary from mild to life-threatening. There is no cure and treatment is supportive, including close monitoring of the digestive, excretory and particularly the cardiovascular systems. Defective B4GALT7, a galactosyltransferase important in proteoglycan synthesis, causes the progeroid variant of EDS (MIM:130070). Features include an aged appearance, developmental delay, short stature, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin.

Summary from Reactome (R-HSA-3560783), read 2026-09-23.