Background MEGDHEL is an autosomal recessive syndrome defined as 3‐MEthylGlutaconic aciduria (3‐MGA) with Deafness, Hepatopathy, Encephalopathy, and Leigh‐like syndrome on magnetic resonance imaging, due to mutations in the SERAC1 (Serine Active Site Containing 1) gene, which plays a role in the mitochondrial cardiolipin metabolism. Methods We report the case of a young patient who presented with a convulsive encephalopathy, 3‐methylglutaconic aciduria, deafness, and bilateral T2 hypersignals of the putamen and the thalami, who passed away at 8 years of age. Results Analysis of nuclear genes using an ampliSeq™ targeted custom panel disclosed two compound heterozygous variants in the SERAC1 gene: a nonsense substitution in exon 4, c.202C>T, resulting in a premature stop codon (p.Arg68*), and a novel variant at a canonical splicing site upstream exon 4 (c.129‐1G>C). mRNAs sequencing from the fibroblasts of the patient showed that the splice site variant resulted in exon 3 skipping without frameshift while Western blot experiments showed the absence of SERAC1 expression compared to controls and abnormal filipin staining. Conclusion We showed that the loss of the putative transmembrane domain of SERAC1, due to a novel splice site variant, impairs the protein expression and is responsible for the MEGDHEL syndrome.

This study presents and evaluates a rapid and all-in-one SARS-CoV-2 RT-LAMP based molecular detection system, including RNA extraction or not, for point-of-care or massive testing of naso-pharyngeal swabs. The point-of-care format uses LoopX©, a small portative device ensuring optimal LAMP reaction and automated reading with 95.2% and 95.5% sensitivity and specificity respectively. This system might also be useful for testing other sample types such as saliva.

There are several interferon‐α (IFN‐α) subtypes. Mechanism of disparity in biological effects among members of IFN‐α subtypes remains unexplained. Biological activity of IFN‐α is mediated in part by induction of intracellular antiviral proteins. We studied whether differences in biologic effects of IFN‐α subtypes may rely on their antiviral protein inducing effect. Intracellular induction of MxA protein and anti‐virus‐induced cytopathic effect (CPE) activity of 11 IFN‐α subtypes in human amnion WISH cells have been studied. MxA protein quantitation in cell lysates was performed by immunochemiluminescence assay and anti‐virus‐induced CPE activity was assessed by protection against vesicular stomatitis virus (VSV)‐induced CPE. Range of MxA values was high when cells were treated with 10 and 100 IU/ml of each IFN‐α subtype. Levels of MxA correlated with anti‐VSV‐induced CPE obtained with 10 IU/ml IFN‐α subtype. Together our data show a disparity in MxA‐inducing activity of IFN‐α subtypes and suggest that differences in anti‐VSV‐induced CPE of IFN‐α subtypes in WISH cells can be related to their different ability to induce MxA.