RNU7-1 and Aicardi-Goutières syndrome: In case SF188, aberrant overexpression of 26 histone genes (2.86 × 10−7 ≤ FDR ≤ 0.054) guided re-examination of exome data to uncover compound heterozygous variants in RNU7-1, reported to impact canonical histone transcript processing in Aicardi–Goutières syndrome patients35, which was compatible with our participant’s presenting phenotype (Fig. 6).