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The experiments here advance understanding of the function of the SAMD9L gene and protein in innate immune mechanisms in resisting virus infection and in the pathogenesis of inflammatory, hematological, and neurological disorders. The clinical syndrome defined in two children with de novo truncating SAMD9L mutations expands the phenotypes in this newly recognized autoinflammatory disorder. Analysis of cells expressing normal or mutant SAMD9L reveals the protein represses protein translation, with the truncating mutations greatly exaggerating this activity. The experiments find equally potent gain of function caused by the truncating mutations or a recurrent missense mutation associated with clinically milder ataxia and pancytopenia syndromes, demonstrating that diverse clinical manifestations can arise from mutations that appear cell-biologically equivalent.

All study data are included in the article and/or [ SI Appendix ][1].

[1]: https://www.pnas.org/lookup/suppl/doi:1 ....

New South Wales , Robert Brink , Qiagen Rneasy , Biosystems Quantstudio , Eastern Sydney Local Health Network , Garvan Institute Of Medical Research , National Institute Of Allergy , West Nile , South Eastern Sydney Local Health Network , Novocraft Technologies , Quality Score Recalibrator , Variant Effect Predictor , Essential Amino Acids , Life Technologies , Thermo Fisher Scientific , Garvan Institute , Medical Research , Bioscience Fixable Viability Dye , Applied Biosystems Quantstudio , National Institute , Infectious Diseases ,