EVC2

The EVC2 gene provides instructions for making a protein called limbin. Although the function of this protein is unknown, it appears to be important for normal growth and development. Researchers have determined that the EVC2 gene is active in several organs and tissues before birth, including the heart, lungs, liver, kidneys, pancreas, and muscles used for movement (skeletal muscles).

EVC2 and another gene, EVC, are located very close together on chromosome 4. Researchers believe that the two genes may have related functions and that their activity may be coordinated.

Ellis-van Creveld syndrome - caused by mutations in the EVC2 gene

At least 20 mutations in the EVC2 gene have been shown to cause Ellis-van Creveld syndrome. These mutations occur in both copies of the EVC2 gene in each cell. Most of the genetic changes lead to the production of an abnormally small, nonfunctional version of the limbin protein. How a lack of this protein results in dwarfism, heart defects, and the other characteristic features of Ellis-van Creveld syndrome is unknown.

other disorders - caused by mutations in the EVC2 gene

A change in the EVC2 gene also causes a skeletal disorder called Weyers acrodental dysostosis. This change occurs in one copy of the EVC2 gene in each cell. The signs and symptoms of Weyers acrodental dysostosis are similar to, but typically milder than, those of Ellis-van Creveld syndrome. People with Weyers acrodental dysostosis can have mild short stature, but are often of average height. Other common features include extra fingers and toes (polydactyly), unusually formed nails, and dental abnormalities.

Only one EVC2 mutation has been associated with Weyers acrodental dysostosis. The mutation (written as 3793delC) deletes a single DNA building block (base pair) from the gene, leading to the production of an abnormally short version of limbin. It is unclear how this mutation leads to the signs and symptoms of this skeletal disorder.