Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
; ; et al
in Clinical genetics (2014)
Three overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical ... [more ▼]
Three overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of RECQL4 sequencing. The aim of our study was therefore to determine the best clinical indicators for the presence of RECQL4 mutations in a series of 39 patients referred for RECQL4 molecular analysis and belonging to the RTS (27 cases) and BGS (12 cases) spectrum. One or two deleterious RECQL4 mutations were found in 10/27 patients referred for RTS diagnosis. Clinical and molecular reevaluation led to a different diagnosis in 7/17 negative cases, including Clericuzio-type poikiloderma with neutropenia, hereditary sclerosing poikiloderma, and craniosynostosis/anal anomalies/porokeratosis. No RECQL4 mutations were found in the BGS group without poikiloderma, confirming that RECQL4 sequencing was not indicated in this phenotype. One chromosomal abnormality and one TWIST mutation was found in this cohort. This study highlights the search for differential diagnoses before the prescription of RECQL4 sequencing in this clinically heterogeneous group. The combination of clinically defined subgroups and next-generation sequencing will hopefully bring to light new molecular bases of syndromes with poikiloderma, as well as BGS without poikiloderma. [less ▲]Detailed reference viewed: 25 (0 ULg)
XX. CoRoT-20b: A very high density, high eccentricity transiting giant planet
; ; et al
in Astronomy and Astrophysics (2012), 538
We report the discovery by the CoRoT space mission of a new giant planet, CoRoT-20b. The planet has a mass of 4.24 +/- 0.23 MJ and a radius of 0.84 +/- 0.04 RJ. With a mean density of 8.87 +/- 1.10 g/cm^3 ... [more ▼]
We report the discovery by the CoRoT space mission of a new giant planet, CoRoT-20b. The planet has a mass of 4.24 +/- 0.23 MJ and a radius of 0.84 +/- 0.04 RJ. With a mean density of 8.87 +/- 1.10 g/cm^3, it is among the most compact planets known so far. Evolution models for the planet suggest a mass of heavy elements of the order of 800 ME if embedded in a central core, requiring a revision either of the planet formation models or of planet evolution and structure models. We note however that smaller amounts of heavy elements are expected from more realistic models in which they are mixed throughout the envelope. The planet orbits a G-type star with an orbital period of 9.24 days and an eccentricity of 0.56. The star's projected rotational velocity is vsini = 4.5 +/- 1.0 km/s, corresponding to a spin period of 11.5 +/- 3.1 days if its axis of rotation is perpendicular to the orbital plane. In the framework of Darwinian theories and neglecting stellar magnetic breaking, we calculate the tidal evolution of the system and show that CoRoT-20b is presently one of the very few Darwin-stable planets that is evolving towards a triple synchronous state with equality of the orbital, planetary and stellar spin periods. [less ▲]Detailed reference viewed: 21 (5 ULg)
Composition of the essential oil of Piper acutifolium Ruiz. and Pav. from Peru.
Lognay, Georges ; ; et al
in Journal of Essential Oil Research (1996), 8(6),Detailed reference viewed: 77 (3 ULg)