Fig. 1

DDX3X variants. Top, variants in the cohort: protein-truncating variants (PTVs) are colored tan, while missense variants and in-frame deletions are colored blue. The male participant carries the p.Arg292Leu variant. Bottom, recurrent variants: variants reported at least three times in the literature and/or in ClinVar. The helicase ATP-binding and helicase C-terminal domains are shown as reported in Uniprot O00571