Study group Phenotype Patients germline mutation(s)* Hepatic cysts (n) Ref. Watnick et al. 1998 ADPKD1 JHU415. c.12378C>G 12 [33]   ADPKD1 JHU452. PKD1 c.7165T>C and PKD1 c.9047A>G 9   Pei et al. 1999 ADPKD2 UT1500. PKD2 c.2152insA 13 [30] Badenas et al. 2000 ADPKD1 3. Germline mutation not available 15 [28] Janssen et al. 2011 PCLD 1. PRKCSH c.1341-2A>G 14 [34]   PCLD 2. PRKCSH c.1341-2A>G 12     PCLD 3. PRKCSH c.1341-2A>G 9     PCLD 4. PRKCSH c.1341-2A>G 9     PCLD 5. PRKCSH c.292+1G>C 5     PCLD 6. PRKCSH c.292+1G>C 13     PCLD 7. PRKCSH c.292+1G>C 7     PCLD 8. PRKCSH c.1341-2A>G 2   Janssen et al. 2012 PCLD 1. SEC63c.1703_1705delAAG 34 [35]   PCLD 2. SEC63 c.1703_1705delAAG 4     PCLD 3. SEC63 c.958G>T 14   *TranscriptID. PRKCSH (NM_002743.2); PKD1 (L33243.1); PKD2 (NM_000297.2)

Table 2: Overview of the number of hepatic cyst tissues per PLD patient for evaluation of somatic hits. An extended number of hepatic cysts in several patients have been analyzed in PCLD compared to ADPKD; n=71 cysts and n=52 cysts in PRKCSH and SEC63 affected individuals respectively.