TRPS1

The TRPS1 gene provides instructions for making a protein that regulates the activity of many other genes. This protein probably interacts with specific regions of DNA and with other proteins to turn genes on or off. Based on this role, the TRPS1 protein is called a transcription factor. Research suggests that the TRPS1 protein plays a role in regulating growth of bone and cartilage, a tough but flexible tissue that makes up much of the skeleton during early development.

Langer-Giedion syndrome - associated with the TRPS1 gene

The deletion or mutation of the TRPS1 gene and at least one other gene on chromosome 8 causes Langer-Giedion syndrome. These mutations cause no TRPS1 protein to be made, which disrupts normal bone growth. Researchers believe that the loss of functional TRPS1 protein contributes to short stature, cone-shaped ends of the long bones (epiphyses), and distinctive facial features in people with Langer-Giedion syndrome.

People with Langer-Giedion syndrome are always missing one functional copy of the TRPS1 gene in each cell; however, other neighboring genes may also be involved. The deletion or mutation of additional genes near the TRPS1 gene likely contributes to the varied features of this condition.

other disorders - caused by mutations in the TRPS1 gene

Mutations in the TRPS1 gene have been found to cause trichorhinophalangeal syndrome type I and trichorhinophalangeal syndrome type III. Trichorhinophalangeal syndrome type I is characterized by a distinctive facial appearance that includes sparse scalp hair; a rounded nose; a long, flat area between the nose and the upper lip (philtrum); and a thin upper lip. Individuals with this condition also have skeletal abnormalities such as cone-shaped epiphyses in their fingers and toes and short stature. People with trichorhinophalangeal syndrome type III have similar features as those with type I, but they are generally shorter in stature and have very short fingers (brachydactyly).