Structural heart defects and renal anomalies syndrome (SHDRA) is a severe developmental disorder associated with congenital cardiac malformations and early childhood mortality. It has been reported that mutations in TMEM260 cause this disease. TMEM260 encodes a novel protein-specific O-mannosyltransferase that selectively glycosylates a common protein domain shared among cMET, RON, and plexin receptors.
