Question: What are the genetic changes related to juvenile hyaline fibromatosis ?
Answer: Mutations in the ANTXR2 gene (also known as the CMG2 gene) cause juvenile hyaline fibromatosis. The ANTXR2 gene provides instructions for making a protein involved in the formation of tiny blood vessels (capillaries). Researchers believe that the ANTXR2 protein is also important for maintaining the structure of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. The signs and symptoms of juvenile hyaline fibromatosis are caused by the accumulation of a clear (hyaline) substance in different parts of the body. The nature of this substance is not well known, but it is likely made up of protein and sugar molecules. Researchers suspect that mutations in the ANTXR2 gene disrupt the formation of basement membranes, allowing the hyaline substance to leak through and build up in various body tissues.
Source: GHR