IP: Dr. Jaume Bertarnpetit

Resumen del proyecto: Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive malformation syndrome, ranges in clinical severity from mild dysmorphism and moderate mental retardation to severe congenital malformation and intrauterine lethality. Mutations in the gene for D7-sterol reductase (DHCR7), which catalyzes the final step in cholesterol biosynthesis in the endoplasmic reticulum (ER), cause SLOS. Witsch-Baumgartner et al. (2000) determined, in patients with clinically and biochemically characterized SLOS the mutational spectrum in the DHCR7 gene. Forty different SLOS mutations, some frequent, were identified. This project aims to study the frequency of SLOS mutation in Turkey, Greece, Italy and Spain populations to focus on the evolutionary biology and the dynamics of the disease.

Entidad financiadora: Universitat Pompeu Fabra