Page 153 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
caParrós-martín Ja, de luca a, cartault F, aglan m, temtamY s, otaiFY ga, mehreZ m, Valencia m, VáZqueZ l, alessandri Jl, neVado J, rueda-arenas i, heath Ke, digilio mc, dallaPiccola B, goodshiP Ja, mill P, laPunZi- na P, ruiZ-PereZ Vl. Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupt- ing the recruitment of the EvC complex and SMO into the cilium. Hum Mol Genet. 2015 Jul; 24(14):4126-37.
mattos eP, silVa aa, magalhães Ja, leite Jc, leist-
torreBlanca-Zanca a, laPunZina P, ruiZ-PereZ Vl, sanseVerino mt. Identification of a premature stop co- don mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability. Am J Med Genet A. 2015 Jun;167(6):1323-9.
Valencia m, taBet l, YaZBecK n, araJ a, ruiZ-PereZ Vl, charaFFedine K, Fares F, Badra r, Farra c. Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families. Case Rep Genet. 2015; 2015:528481. doi:
ner-segal s, gus-Kessler r, PereZ Ja, Vedolin lm,
Highlights
Ellis-van Creveld syndrome (MIM: 225500; EvC) is a developmental disorder characterized by short ribs and limbs, ectodermal defects in teeth and nails and congenital heart disease. Until now all patients with EvC had been reported with mutations in EVC or EVC2, however studies from different labs had suggested wider genetic heterogeneity. In 2015 our group in collaboration with the U753 and other in- ternational labs from United Kingdom, Italy, France and Egypt described splicing mutations in WDR35 in patients diagnosed with EvC. In addition to the classical findings of EvC, these patients also had
10.1155/2015/528481.
some features present in Sensenbrenner syndrome (MIM:613610). On the other hand, we revealed that Wdr35 is required for the localization of EVC, EVC2 and SMO to primary cilia, an organelle which is es- sential for Hedgehog (Hh) signal transduction. The analysis of this pathway showed that the WDR35 mutations identified in EvC patients, like the muta- tions in EVC or EVC2, all result in partial inhibition of Hh signaling, hence providing a molecular explana- tion for the convergence of phenotypes associated with mutations in WDR35 and EVC-EVC2.
Institution: Agencia Estatal Consejo Superior de Investigaciones Científicas
Contact: Instituto de Investigaciones Biomédicas Alberto Sols · C/ Arturo Duperier, 4, 28029 Madrid Tel.: 91 585 43 87 · E.mail: [email protected] · Website: https://www.iib.uam.es/portal/
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