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Molecular analysis of the Ellis-van Creveld Syndrome in the EVC3 epiphyseal growth plate and evaluation of the BBS-EvC connection

14th national competition for scientific and technical research

Rare diseases

Senior Researcher : Víctor Luis Ruiz Pérez

Research Centre or Institution : Instituto de Investigaciones Biomédicas "Alberto Sols". CSIC-Universidad Autónoma de Madrid.


Ellis-van Creveld Syndrome (EvC) is an autosomal-recessive pathology that affects development and is originated by mutations in two new genes, EVC and EVC2. The frequency of EvC is one in 60,000 births, although in isolated populations or closed ethnic groups, due to the greater blood relationship, it can become relatively frequent, as in the case of the Amish community in Pennsylvania. Patients with Ellis-van Creveld Syndrome have a medical profile comprised of multiple congenital malformations characterised by low height with short limbs and ribs, fused wrist bones, polydactylism, severe abnormalities in nails and teeth and incomplete partitioning of the heart. Cardiac malformations and thoracic dysplasia cause 30% of mortality among babies born with EvC. While most heterozygotic individuals carrying mutations in EvC or EvC2 are asymptomatic, specific heterozygotic mutations in EvC or EvC2 cause "acrofacial dysostosis" or Weyer Syndrome. Weyer, as opposed to EvC, has a less serious phenotype and a dominant inheritance mode. We have generated an animal model for the purpose of determining the molecular foundations of EvC. The EvC knockout mice reproduce the skeletal and dental defects observed in patients, in addition to the perinatal mortality. Preliminary studies carried out on these animals demonstrate that EvC is indispensable to the proper functioning of the "Hedgehog signalling pathway", one of the fundamental molecular pathways for embryonic development. This project will enable us to: 1) advance in the knowledge of the role of EvC and EvC2 and determine the genes, pathways and molecular mechanisms that are altered in the limb bone growth plate of mice devoid of EvC; 2) generate a new animal model in which to study the molecular effects produced by the genic disruption of EvC2 and the simultaneous disruption of EvC and EvC2; and 3) seek new genetic causes of EvC. As EvC and EvC2 intervene in the formation of the heart and skeleton, we expect that the knowledge acquired through this project will be applied not only to the treatment of EvC, but also to that of diseases with greater incidence in the population, such as cardiovascular diseases or rheumatoid arthritis.

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