Ellis-van Creveld syndrome ..., (Ellis-van Creveld syndrome) - Genes EVC or EVC2.
The Ellis-van Creveld syndrome is a hereditary disorder of bone growth that causes dwarfism. Signs and symptoms include associated forearms and lower legs particularly short, narrow thorax with short ribs, Polydactyly, nail deformity and dental anomalies. More than half of the affected individuals are born with a heart defect, which can cause problems serious or life - threatening health.
The features of Ellis-van Creveld syndrome overlap with acrofacial dysostosis Weyers. Like the Ellis-van Creveld syndrome, the acrofacial dysostosis Weyers involves abnormalities of the teeth and nails, although affected individuals have a less pronounced short stature and usually have no heart defects. The two changes are due to mutations in the same gene.
The Ellis-van Creveld syndrome is due, in more than half of the cases, to mutations in the EVC genes, located on the short arm of chromosome 4 (4p16) and EVC2, located on the short arm of chromosome 4 (4p16 .2). Although little about the function of these genes are known, appear to play an important role in intercellular signaling during development. In particular, it is believed that the proteins encoded from genes EVC2 EVC and help regulate the signaling pathway "Sonic Hedgehog". This pathway plays roles in cell growth, cell specialization and pattern of many parts of the body.
There are more than 25 mutations in the EVC gene and over 30 mutations in the gene associated EVC2 Ellis-van Creveld syndrome. These genetic changes disrupt the normal function of the EVC and EVC2 protein or encoding lead to an abnormally small version, both non - functional proteins. Although it is unclear how the loss of function of both proteins underlies the signs and symptoms of Ellis-van Creveld syndrome it is likely to prevent normal signaling "Sonic Hedgehog" in the developing embryo, disrupting the formation and growth of bones, teeth and other parts of the body. The reason for the remaining cases of the disease that are not due to mutations in these genes is unknown.
This disease is inherited in an autosomal recessive pattern, that is, both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease.
Tests in IVAMI: in IVAMI perform detection of mutations associated with Ellis-van Creveld syndrome by complete PCR amplification of the exons of EVC and EVC2 genes, respectively, and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).