Definition:

Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (OCLSBG) is characterized by fetal lethality, severe hypomineralization of the entire skeleton and intra-uterine fractures, and multiple congenital developmental anomalies affecting the brain, lungs, and kidneys. It has been demonstrated that TAPT1 mutations underlie this disease. TAPT1 is a centrosome and/or ciliary basal body protein that could have a dual role in cartilage and bone development. First, it affects intracellular protein trafficking and organization of cellular organelles. Second, TAPT1 could play a role in ciliary assembly and signaling, and influence osteoblast and/or chondrocyte differentiation.