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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.

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).