Fig. 2.

Schematic representation of the Helios protein and its functional domains. Adapted and updated version of a previously published figure by Mohajeri et al. (2023). The variants reported in this study are shown above the protein, while previously reported variants are displayed below the protein. The underlined variant was found to by present homozygously. Grey arrows indicate missense variants, and black arrows indicate stop gain variants. The legend for the symbols used is provided within the figure: ‘Hearing loss’ signifies non-syndromic hearing loss and pertains to the subjects in this study; ‘Immune abnormality’ refers to variants associated with immune deficiency or dysregulation (Hetemäki et al. 2021; Mayr et al. 2022; Shahin et al. 2022); and ‘Multiple symptoms’ indicates syndromic disease, including both hearing loss and immune abnormalities, referencing two patients described by Mohajeri et al. (2023). Exon numbers are according to the reference sequence NM_001387220.1. ZF, zinc-finger motif