Fig. 1.

Pedigrees of the families. A: Family 1. The two affected children (V:3 and V:6) are both homozygous for the DZIP1L sequence variant: c.216C > G; p.(Cys72Trp). a: Ultrasound scan of the left kidney in V:3 and b: Ultrasound scan of the left kidney in V:6. B. Family 2. The proband (III:3) is homozygous for the same sequence variant as identified in family 1: c.216C > G; p.(Cys72Trp). C. Family 3. The proband (VI:2) is homozygous for the DZIP1L sequence variant: c.193T > C; p.(Cys65Arg). Filled symbols indicate homozygous individuals, and half-filled symbols indicate heterozygous relatives. a: MR-scan of the kidneys from VI:2 showing enlarged kidneys with multiple cysts. b: Histological sections from the right kidney in HE staining (VI:2): Cortical and medulla areas with cysts. Subcapsular, a small area shows a more normal structure. For details, see text. Arrows indicate the probands