Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.

BACKGROUND: In 1993, Chitayat et al., reported a newborn with hyperphalangism, facial anomalies, and bronchomalacia. We identified three additional families with similar findings. Features include bilateral accessory phalanx resulting in shortened index fingers; hallux valgus; distinctive face; respiratory compromise. OBJECTIVES: To identify the genetic aetiology of Chitayat syndrome and identify a unifying cause for this specific form of hyperphalangism. METHODS: Through ongoing collaboration, we had collected patients with strikingly-similar phenotype. Trio-based exome sequencing was first performed in Patient 2 through Deciphering Developmental Disorders study. Proband-only exome sequencing had previously been independently performed in Patient 4. Following identification of a candidate gene variant in Patient 2, the same variant was subsequently confirmed from exome data in Patient 4. Sanger sequencing was used to validate this variant in Patients 1, 3; confirm paternal inheritance in Patient 5. RESULTS: A recurrent, novel variant NM_006494.2:c.266A>G p.(Tyr89Cys) in ERF was identified in five affected individuals: de novo (patient 1, 2 and 3) and inherited from an affected father (patient 4 and 5). p.Tyr89Cys is an aromatic polar neutral to polar neutral amino acid substitution, at a highly conserved position and lies within the functionally important ETS-domain of the protein. The recurrent ERF c.266A>C p.(Tyr89Cys) variant causes Chitayat syndrome. DISCUSSION: ERF variants have previously been associated with complex craniosynostosis. In contrast, none of the patients with the c.266A>G p.(Tyr89Cys) variant have craniosynostosis. CONCLUSIONS: We report the molecular aetiology of Chitayat syndrome and discuss potential mechanisms for this distinctive phenotype associated with the p.Tyr89Cys substitution in ERF

Acteurs publics et stations de moyenne montagne : regards croisés sur la mise en oeuvre des politiques de diversification

National audienc

Design of a multi-well plate for high-throughput characterization of heterogeneous catalysts by XRD, FT-IR, Raman and XRF spectroscopies

International audienceFor powder catalyst characterization, Fourier Transform Infrared (FTIR), Raman, and X-Ray Fluorescence (XRF) spectrometers and X-Ray Diffraction (XRD) are available in high-throughput (HT) configurations, for example at the REALCAT platform to sequentially analyse multiple sets of samples. To remove the bottleneck resulting from the use of different sample holders for each equipment, a unique multi-well plate was developed. This paper details the design of such a plate including the selection of the fabrication material and the plate dimensioning based on the study of the 4 different physical interactions between matter and electromagnetic radiations for the aforementioned techniques. This new plate consists of a holder for removable wells enabling the avoidance of cross-contamination between samples. Raman, a focusing technique, has no strict constraint on the plate design. The number of wells, their geometry, spacing and dimensions were adjusted to deal with the constraints of IR optics. The well depth was set according to the XRF maximum penetration depth in the sample. The well diameter was optimized in order to obtain from the X-ray spot size the maximum achievable intensity. Poly-methyl-methacrylate (PMMA) was chosen as the material for the new plate due to its amorphous structure (no peak in XRD analysis) and ease with which it can be cut by a laser. Finally, the flatness of the multi-well plate was validated on the most challenging instrument: XRD. This new plate allows fast sample filling/preparation, requires small quantities of catalyst (50 to 80 mg) in each well and is compatible and convenient for HT experimentation

Fully integrated high-throughput methodology for the study of Ni- and Cu-supported catalysts for glucose hydrogenation

International audienc

The Governance of Local Development: An assessment of organisational capacity in North West Europe

Many of Europe's regions and localities have traditionally relied for their development on central government policy intervention and large-scale enterprise (Stohr, 1990 Stohr, W. 1990. “Synthesis”. In Global Challenge and Local Response: Initiatives for Economic Regeneration in Contemporary Europe, Edited by: Stohr, W. 1–19. London: Mansell. [Google Scholar]). However, over the past 25 years they have adjusted these preferences by more fully embracing local action. Today, the theory and practice of local development emphasize its potential to identify and harness a wide variety of resources in ways that are often more effective and efficient than top-down initiatives acting alone. This approach requires appropriate governance arrangements that are strongly supportive, not least politically, of local activity. It requires the formation and operation of local level alliances by stakeholders who can think and act strategically within organizational structures whose missions have been shaped by those whom local development programmes are intended to benefit. And of course, it is vital that the scope of local development is defined as a multi-dimensional set of activities that recognize the interdependence not just of social, economic, cultural and environmental measures, but also the very real connectedness between people and place. Spatial development approaches to local development are, therefore, an important element of any coherent local development framework