OCRL and oculocerebrorenal syndrome: Recent studies of OCRL variant transcripts (Sakakibara et al., 2022) and splicing assays in a minigene system (Rossanti et al., 2025) suggest that differences in Ocrl1 isoform expression leading to truncation or aberrant splicing help account for some of the genotype/phenotype variation between Dent 2 and Lowe syndrome.