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. Author manuscript; available in PMC: 2021 Feb 1.
Published in final edited form as: Kidney Int. 2019 Oct 9;97(2):370–382. doi: 10.1016/j.kint.2019.08.038

Figure 5. Pedigree, imaging and sequencing data of mosaic families not segregating the pathogenic variant.

Figure 5.

(III). (A) Pedigree M1327 shows the mosaic proband (II-2) has untested twin girls and a son. (B) SS of II-2 confirms mosaicism for a 14bp deletion. (C) Just a few bilateral cysts are detected in II-2 by MRI at 46y. (D) The mosaic proband in M855 (II-4) has 3 untested children. (E) SS of II-4 confirms mosaicism of a deletion/insertion. (F) CT of II-4 at 39y show just a few small cysts in the kidney and liver. (G) Pedigree 290084 shows two offspring of the mosaic subject (II-7) either negative for PKD or untested. (H) AS-PCR shows the mutant allele just in II-7 but not a control (N), and sequencing confirms the substitution (Figure S2G). (I) MRI of II-7 show moderate kidney disease and severe PLD. (J) The mosaic proband (II-1) in M174 is the only affected member. (K) AS-PCR shows that II-1 has p.Arg4228* that is also found in a positive control (P) but not an individual without this change (N), and SS shows the substitution at a very low level (Figure S2H). (L) CT of II-1 at 82y, shortly before ESRD, shows a few large cysts in both kidneys. (M) Pedigree 290114 shows the mosaic individual (II-1) has three untested children. (N) SS of II-1 shows mosaicism for a 24bp, splice site spanning, deletion. (O) II-1 has mild cystic disease with a few moderately sized cysts. Pedigree: red shaded, mosaic; gray, equivocal or unknown; white, ADPKD negative. The percentage of the observed versus the expected level of the PAL is indicated next to each radiological image.