What Is Known About The Genetic Cause of Ellis-van Creveld Syndrome?
EVCS is inherited in an autosomal recessive manner. In the past several years, human molecular geneticists discovered that EVCS-caused defects arise in people who have a mutation in both copies of either one of two genes, designated EVC and EVC2 and which are located very close to each other on chromosome 4.
While more than 20 EVC and EVC2 gene mutations that are causative of EVCS have been discovered in the general population of EVCS sufferers, the functions of the proteins that are encoded by these genes in humans remains unknown, studies in mouse suggest that these proteins are needed for proper function of the hedgehog signaling pathway.
The hedgehog signaling pathway has long been known to be important for the proper carrying out of many different molecular events during the time of embryonic development. With this knowledge in hand, molecular biologists are working to discover the exact functions of the genes encoded by EVC and EVC2 in humans, as it is hoped that such information will be useful for developing methods of treating certain symptoms of EVCS in people. Although many EVCS-associated defects, such as short stature, for example, may not be reversible or otherwise treatable.
This article is only meant to provide some basic information regarding the genetic condition known as Ellis-van Creveld Syndrome. If you have any further questions regarding this inherited disorder, please contact your doctor or consult a genetic counselor.