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Arthrogryposis describes the presence of multiple joint‐contractures. Clinical severity of this phenotype is variable, and more than 400 causative genes have been proposed. Among these, ERGIC1 is a recently reported candidate encoding a putative transmembrane protein of the ER‐Golgi interface. Two homozygous missense variants have been reported in patients with relatively mild non‐syndromic arthrogryposis. In a consanguineous family with two affected siblings presenting congenital arthrogryposis and some facial dysmorphism we performed prenatal array‐CGH, postnatal targeted exome and genome sequencing. Genome sequencing identified a homozygous 22.6 Kb deletion encompassing the promoter and first exon of ERGIC1. mRNA quantification showed the complete absence of ERGIC1 expression in the two affected siblings and a decrease in heterozygous parents. Our observations validate the pathogenic role of ERGIC1 in congenital arthrogryposis and demonstrate that complete loss of function causes a relatively mild phenotype. These findings will contribute to improve genetic counseling of ERGIC1 mutations.

International audience; Design, development, manufacturing, and test activities of the RF power system (RFPS) for Linear IFMIF Prototype Accelerator (LIPAc) were completed in Europe. Installation and commissioning activities were carried out at the International Fusion Materials Irradiation Facility-Engineering Validation and Engineering Design Activities (IFMIF/EVEDA) site in Rokkasho, Japan. Challenging IFMIF requirements led to a number of innovations during design and development. Commissioning required a major effort on calibration and fine setting and led to development of new functionalities. The RFPS was validated under full power and 125-mA deuteron beam loading conditions, in the radio frequency quadrupole (RFQ), demonstrating good performance. This article is an overview about how technical challenges impacted the prototype RFPS design and its functional evolution during commissioning, cavity conditioning, and beam operation of the RFQ.

The IFMIF project aiming at material tests for a future fusion DEMO reactor is under the EVEDA phase in the BA Agreement of fusion program between Japan and EU. As the accelerator activity, the installation and commissioning of the Linear IFMIF Prototype Accelerator (LIPAc) is at the second stage of demonstration of the feasibility of the low energy section of an IFMIF deuteron accelerator up to 9 MeV with a beam current of 125 mA, CW. The installation of injector, RFQ, MEBT, D-Plate and LPBD for LIPAc with 8 coaxial high-power transmission lines and RF power system was just done in 2017 at Rokkasho, Japan. After that, the RF conditioning of RFQ for beam commissioning is underway. The beam commissioning of RFQ with H+/D+ and the acceleration demonstration up to 5MeV-125mA-0.1% duty cycle with D+ will be done.

During a TJ-II pulse, the provision of magnetic fields requires a total amount of power exceeding 80 MVA. Such amount of power is supplied by a 132 MVA flywheel generator (15 kV output voltage, 80–100 Hz output frequency) and the related motor, transformers, breakers, rectifiers, regulators, protections, busbars, connections, etc. Failure data of these main components have been collected identified and processed including information on failure modes and, where possible, causes of the failures. Main statistical values about failure rates for the period from May of 1998 to December of 2004 have been calculated and are ready to be compared with those of the International Fusion Component Failure Rate Database (FCFR-DB).