Figure 1.

The illustration depicts family pedigrees and the RTN2 gene, highlighting the biallelic and monoallelic variants identified in this study and previous studies respectively. (A) Pedigrees of 14 individuals from seven consanguineous families with segregating homozygous RTN2 variants are shown. (B) The localization of the presented variants across the gene is displayed. With homozygous loss-of-function variant (black) identified in this study shown above the gene schematic, and previously reported heterozygous variants (grey) shown below the gene.