SLU7 and retinitis pigmentosa: Consistent with a broad range of autosomal dominant disorders in humans (e.g., retinitis pigmentosa caused by the splicing factor PRPF31 (60)), such discrepancies can likely be explained by effects in cis (expression level of WT RPL17 mRNA in variant carriers), or effects in trans (mutational burden, protective alleles, or variable expression of functionally related transcripts).