EVC

The EVC gene provides instructions for making a protein whose function is unknown; however, it appears to be important for normal growth and development. Researchers have determined that the EVC gene is active before birth in the developing heart, bones, kidneys, and lungs.

EVC and another gene, EVC2, 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 EVC gene

More than 20 mutations in the EVC gene have been reported to cause Ellis-van Creveld syndrome. These mutations occur in both copies of the EVC gene in each cell. The genetic changes disrupt the normal function of the EVC protein or lead to the production of an abnormally small, nonfunctional version of the protein. It is unclear how a loss of this protein's function results in dwarfism, heart defects, and the other characteristic features of Ellis-van Creveld syndrome.

other disorders - associated with the EVC gene

A change in the EVC gene can also cause a skeletal disorder called Weyers acrodental dysostosis. This change occurs in one copy of the EVC 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 mutation in the EVC gene has been associated with Weyers acrodental dysostosis. This mutation affects a single protein building block (amino acid) used to make the EVC protein. Specifically, it replaces the amino acid serine with the amino acid proline at position 307 (written as Ser307Pro). How this genetic change leads to the signs and symptoms of this skeletal disorder is unknown.