TRIP11

Achondrogenesis

Several variants (also called mutations) in the TRIP11 gene have been found to cause a form of achondrogenesis known as type 1A or the Houston-Harris type. This rare disorder of bone development is characterized by extremely short limbs, a narrow chest, short ribs that fracture easily, and a lack of normal bone formation (ossification) in the skull, spine, and pelvis. Serious health problems result from these abnormalities, and infants with achondrogenesis usually die before or soon after birth.

The TRIP11 gene variants associated with achondrogenesis type 1A often lead to the production of a nonfunctional version of TRIP-11 or prevent the cell from producing any of this protein. Studies suggest that a shortage of TRIP-11 activity alters the structure and function of the Golgi apparatus, which impairs protein modification. Chondrocytes appear to be particularly sensitive to these changes, and malfunction of the Golgi apparatus in these cells likely underlies the problems with bone formation in achondrogenesis type 1A.