Mutations in capillary morphogenesis gene-2 (CMG-2) and use thereof

摘要

Mutations and polymorphisms in a particular gene, the capillary morphogenesis gene-2 (CMG-2) have been identified. The mutations have been associated with infantile systemic hyalinosis (ISH) and juvenile hyaline fibromatosis (JHF), as well as conditions associated with these disorders. Described herein are variant CMG-2 nucleic acids and variant CMG-2 polypeptides; cells comprising such variant CMG-2 nucleic acids and/or expressing variant CMG-2 polypeptides; and methods of diagnosing and treating such disorders and conditions. Variant CMG-2 proteins include those comprising one or more of E220X, G105D, L329, P257insC, 1189T, A357P, and A322S. Variant CMG-2 nucleic acids include those encoding these mutant CMG-2 proteins, as well as silent mutations or polymorphisms.