CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome

Abstract

Hyaline fibromatosis syndrome (HFS) is a hereditary disease characterized by nodular cutaneous lesions and joint pain. Here Bürgiet al. show that CMG2/ANTXR2 regulates collagen VI abundance, with loss-of-function mutations promoting collagen VI accumulation in HFS nodules and myometrial collagen deposition and sterility in mice, which can be rescued by depleting collagen VI.